Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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Variant: NM_005343.3(HRAS):c.257A>C (p.Asn86Thr)

CA180888

40437 (ClinVar)

Gene: LRRC56

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 7a67f8eb-da68-4c6b-9d98-ee169176af3c

Approved on: 2017-04-03

Published on: 2018-12-10

HGVS expressions

NM_005343.3:c.257A>C

NM_005343.3(HRAS):c.257A>C (p.Asn86Thr)

NM_001130442.1:c.257A>C

NM_005343.2:c.257A>C

NM_176795.3:c.257A>C

NM_001130442.2:c.257A>C

NM_001318054.1:c.-63A>C

NM_176795.4:c.257A>C

NM_005343.4:c.257A>C

ENST00000311189.7:c.257A>C

ENST00000397594.5:c.257A>C

ENST00000397596.6:c.257A>C

ENST00000417302.5:c.257A>C

ENST00000451590.5:c.257A>C

ENST00000468682.2:n.745A>C

ENST00000479482.1:n.178A>C

ENST00000493230.5:c.257A>C

NC_000011.10:g.533799T>G

CM000673.2:g.533799T>G

NC_000011.9:g.533799T>G

CM000673.1:g.533799T>G

NC_000011.8:g.523799T>G

NG_007666.1:g.6752A>C

Benign

BA1 BP5

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.257A>C (p.Asn86Thr) variant in the HRAS gene is 0.07% for African chromosomes by the Exome Aggregation Consortium (12/10342 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).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data GTR ID: 21766, 26957 ClinVar SCV000204177.4; SCV000207861.7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied: BA1, BP5.

BA1

The allele frequency of the c.257A>C (p.Asn86Thr) variant in the HRAS gene is 0.075% (18/23998) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), 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).

BP5

This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data GTR ID: 21766, 26957 ClinVar SCV000204177.4; SCV000207861.7).

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