Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document
  • See Evidence submitted by expert panel for details.

Variant: NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys)

CA000069

182953 (ClinVar)

Gene: TP53
Condition: Li-Fraumeni syndrome 1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: b7e523bb-93f5-4505-943a-3286739499c5

HGVS expressions

NM_001126112.2:c.214_215delinsTG
NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys)
ENST00000269305.9:c.214_215delinsTG
ENST00000269305.8:c.214_215delinsTG
ENST00000359597.8:n.214_215delinsTG
ENST00000413465.6:n.214_215delinsTG
ENST00000420246.6:c.214_215delinsTG
ENST00000445888.6:c.214_215delinsTG
ENST00000455263.6:c.214_215delinsTG
ENST00000503591.1:c.214_215delinsTG
ENST00000505014.5:n.470_471delinsTG
ENST00000508793.5:c.214_215delinsTG
ENST00000509690.5:c.-21-919_-21-918delinsTG
ENST00000514944.5:c.96+227_96+228delinsTG
ENST00000604348.5:c.214_215delinsTG
ENST00000610292.4:c.97_98delinsTG
ENST00000610538.4:c.97_98delinsTG
ENST00000615910.4:n.214_215delinsTG
ENST00000617185.4:c.214_215delinsTG
ENST00000619485.4:c.97_98delinsTG
ENST00000620739.4:c.97_98delinsTG
ENST00000622645.4:c.97_98delinsTG
ENST00000635293.1:c.97_98delinsTG
NM_000546.5:c.214_215delinsTG
NM_001126113.2:c.214_215delinsTG
NM_001126114.2:c.214_215delinsTG
NM_001126118.1:c.97_98delinsTG
NM_001276695.1:c.97_98delinsTG
NM_001276696.1:c.97_98delinsTG
NM_001276760.1:c.97_98delinsTG
NM_001276761.1:c.97_98delinsTG
NM_001276695.2:c.97_98delinsTG
NM_001276696.2:c.97_98delinsTG
NM_001276760.2:c.97_98delinsTG
NM_001276761.2:c.97_98delinsTG
NM_000546.6:c.214_215delinsTG
NM_001126112.3:c.214_215delinsTG
NM_001126113.3:c.214_215delinsTG
NM_001126114.3:c.214_215delinsTG
NM_001126118.2:c.97_98delinsTG
NM_001276695.3:c.97_98delinsTG
NM_001276696.3:c.97_98delinsTG
NM_001276760.3:c.97_98delinsTG
NM_001276761.3:c.97_98delinsTG
NC_000017.11:g.7676154_7676155delinsCA
CM000679.2:g.7676154_7676155delinsCA
NC_000017.10:g.7579472_7579473delinsCA
CM000679.1:g.7579472_7579473delinsCA
NC_000017.9:g.7520197_7520198delinsCA
NG_017013.2:g.16396_16397delinsTG

Uncertain Significance

Met criteria codes 2
PM2_Supporting BS2_Supporting
Not Met criteria codes 17
BS4 BS3 BS1 BP3 BP2 BP4 PS2 PS4 PS3 PS1 BA1 PM6 PM4 PM1 PM5 PP1 PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
TP53 VCEP
his variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been observed in 4 60+ year old females without a cancer diagnosis (BS2_Supporting; internal laboratory contributors). In summary, the clinical significance of TP53 c.214_215delinsTG (p.Pro72Cys) is uncertain for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BS2_Supporting, PM2_Supporting.
Met criteria codes
PM2_Supporting
Absent from controls in ExAC, 1000 Genomes, or ESP
BS2_Supporting
4 cancer free 60+ females from Invitae; 3 cancer free 60+ females from GeneDx
Not Met criteria codes
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No data
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
AGVGD is C0; BayesDel not available
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No Kato data, Giacomelli shows noDNE and noLOF. Insufficient data to apply wieght.
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
Not met (Not selected codon (175, 248, 273, 248, 245, 282, 249) or seen in cancerhotspots.org)
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2021-04-12
Published on: 2021-06-16
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