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  • See Evidence submitted by expert panel for details.

Variant: NM_005343.3(HRAS):c.81T>C (p.His27=)

CA135996

40431 (ClinVar)

Gene: LRRC56
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: c23db7a4-fb09-4dd7-9ab1-e7f4dfc7dbe9
Approved on: 2017-04-03
Published on: 2018-12-10

HGVS expressions

NM_005343.3:c.81T>C
NM_005343.3(HRAS):c.81T>C (p.His27=)
NC_000011.10:g.534242A>G
CM000673.2:g.534242A>G
NC_000011.9:g.534242A>G
CM000673.1:g.534242A>G
NC_000011.8:g.524242A>G
NG_007666.1:g.6309T>C
NM_001130442.1:c.81T>C
NM_005343.2:c.81T>C
NM_176795.3:c.81T>C
NM_001130442.2:c.81T>C
NM_001318054.1:c.-239T>C
NM_176795.4:c.81T>C
NM_005343.4:c.81T>C
ENST00000311189.7:c.81T>C
ENST00000397594.5:c.81T>C
ENST00000397596.6:c.81T>C
ENST00000417302.5:c.81T>C
ENST00000451590.5:c.81T>C
ENST00000468682.2:n.569T>C
ENST00000493230.5:c.81T>C
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Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.81T>C (p.His27=) variant in the HRAS gene is 36.7% for African chromosomes by the Exome Aggregation Consortium (3874/10274 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). Additional case-level data provided by: SCV000058315; SCV000062146; SCV000196686.
Met criteria codes
BA1
The filtering allele frequency of the c.81T>C (p.His27=) variant in the HRAS gene is 36.7% for African chromosomes by the Exome Aggregation Consortium (3874/10274 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
Curation History
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