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]

Link to SEPIO compliant JSON-LD document

Variant: NM_005343.3(HRAS):c.510G>A (p.Lys170=)

CA135992

45305 (ClinVar)

Gene: LRRC56

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 9a40f720-b52f-4f73-b00a-f4480714a568

HGVS expressions

NM_005343.3:c.510G>A

NM_005343.3(HRAS):c.510G>A (p.Lys170=)

NM_001130442.1:c.510G>A

NM_005343.2:c.510G>A

NM_176795.3:c.*79G>A

NM_001130442.2:c.510G>A

NM_001318054.1:c.273G>A

NM_176795.4:c.*79G>A

NM_005343.4:c.510G>A

ENST00000311189.7:c.510G>A

ENST00000397594.5:c.*79G>A

ENST00000397596.6:c.510G>A

ENST00000417302.5:c.*79G>A

ENST00000451590.5:c.510G>A

ENST00000462734.1:n.285G>A

ENST00000478324.5:n.243-66G>A

ENST00000479482.1:n.431G>A

ENST00000493230.5:c.*79G>A

NC_000011.10:g.532696C>T

CM000673.2:g.532696C>T

NC_000011.9:g.532696C>T

CM000673.1:g.532696C>T

NC_000011.8:g.522696C>T

NG_007666.1:g.7855G>A

Likely Benign

BP4 BP5 BP7

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.510G>A (p.Lys170=) variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the p.Lys170= variant does not impact the protein (BP4).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; LMM and GeneDx internal data; GTR ID's: 21766, 26957; ClinVar SCV000062144; SCV000168832). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5, BP4.

BP4

Computational prediction tools and conservation analysis suggest that the p.Lys170= variant does not impact the protein (BP4).

BP5

This variant has been identified in a patient with an alternate molecular basis for disease (BP5; LMM and GeneDx internal data; GTR ID's: 21766, 26957; ClinVar SCV000062144; SCV000168832).

BP7

The c.510G>A (p.Lys170=) variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7).

Approved on: 2017-04-03

Published on: 2018-12-10

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