Variant: NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln)

CA258396556

506632 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

UUID: 63cb3869-8302-456e-9763-7fa4d7758960

Approved on: 2023-08-23

Published on: 2023-10-13

HGVS expressions

NM_005249.5:c.263G>A
NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln)
NC_000014.9:g.28767542G>A
CM000676.2:g.28767542G>A
NC_000014.8:g.29236748G>A
CM000676.1:g.29236748G>A
NC_000014.7:g.28306499G>A
NG_009367.1:g.5462G>A
ENST00000313071.7:c.263G>A
ENST00000313071.6:c.263G>A
NM_005249.4:c.263G>A

Likely Benign

• Met criteria codes: BS2 BP4 BP5 PM2_Supporting

• Not Met criteria codes: BA1 BS1

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Arg88Gln variant in FOXG1 is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Arg88Gln variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). Computational analysis prediction tools suggest that the p.Arg88Gln variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Arg88Gln variant in FOXG1 is absent from gnomAD (PM2_Supporting). In the absence of other pathogenic evidence beyond PM2_Supporting, and because this variant has been observed in 2 unaffected individuals and 1 individual with an alternate molecular diagnosis, the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel has agreed to overrule the PM2_Supporting criterion and classified the p.Arg88Gln variant in FOXG1 as likely benign (BS2, BP5, BP4).

Met criteria codes

• BS2: The p.Arg88Gln variant is observed in at least 2 unaffected individuals (internal database) (BS2).
• BP4: Computational analysis prediction tools suggest that the p.Arg88Gln variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
• BP5: The p.Arg88Gln variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5)
• PM2_Supporting: The p.Arg88Gln variant in FOXG1 is absent from gnomAD (PM2_Supporting).

Not Met criteria codes

• BA1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline