Variant: NM_005633.3(SOS1):c.294G>A (p.Lys98=)

CA1624823

448944 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: 941717e7-7c04-404f-8bba-f9f7c73a7a6b

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.294G>A
NM_005633.3(SOS1):c.294G>A (p.Lys98=)
NC_000002.12:g.39058724C>T
CM000664.2:g.39058724C>T
NC_000002.11:g.39285865C>T
CM000664.1:g.39285865C>T
NC_000002.10:g.39139369C>T
NG_007530.1:g.66740G>A
ENST00000395038.6:c.294G>A
ENST00000402219.6:c.294G>A
ENST00000426016.5:c.294G>A
ENST00000451331.1:c.123G>A

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

• Met criteria codes: BS1

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.294G>A (p.Lys98=) variant in the SOS1 gene is 0.0284% (9/16504) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)

Met criteria codes

• BS1: The filtering allele frequency of the c.294G>A (p.Lys98=) variant in the SOS1 gene is 0.0284% (9/16504) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)