NM_176795.5(HRAS):c.488_507del (p.Leu163fs) AND RASopathy

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 4, 2019
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001030086.1

Allele description [Variation Report for NM_176795.5(HRAS):c.488_507del (p.Leu163fs)]

NM_176795.5(HRAS):c.488_507del (p.Leu163fs)

Genes:

HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_176795.5(HRAS):c.488_507del (p.Leu163fs)

HGVS:

NC_000011.10:g.533311_533330del
NG_007666.1:g.7230_7249del
NM_001130442.3:c.450+132_450+151del
NM_001318054.2:c.169_188del
NM_005343.4:c.450+132_450+151delMANE SELECT
NM_176795.5:c.488_507del
NP_001304983.1:p.Ser57fs
NP_789765.1:p.Leu163fs
LRG_506t1:c.450+132_450+151del
LRG_506:g.7230_7249del
NC_000011.9:g.533302_533321del
NC_000011.9:g.533311_533330del
NM_176795.4:c.488_507del20

Protein change:

L163fs

Links:

dbSNP: rs776060230

NCBI 1000 Genomes Browser:

rs776060230

Molecular consequence:

NM_001318054.2:c.169_188del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_176795.5:c.488_507del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130442.3:c.450+132_450+151del - intron variant - [Sequence Ontology: SO:0001627]
NM_005343.4:c.450+132_450+151del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: RASopathy
Synonyms:: rasopathies; Noonan spectrum disorder
Identifiers:: MONDO: MONDO:0021060; MedGen: C5555857

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001192879	ClinGen RASopathy Variant Curation Expert Panel	reviewed by expert panel (ClinGen RASopathy ACMG Specifications v1)	Benign (Nov 4, 2019)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001192879

ClinGen RASopathy Variant Curation Expert Panel

reviewed by expert panel

(ClinGen RASopathy ACMG Specifications v1)

Benign
(Nov 4, 2019)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From ClinGen RASopathy Variant Curation Expert Panel, SCV001192879.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

The c.488_507delTCTGGGACCCCCCGGGACCC (p.Leu163HisfsTer30) variant in HRAS is classified as benign because it has been identified in 0.07227% (lower bound of the 95% CI of 21/19470) of East Asian chromosomes in gnomAD (BA1; gnomad.broadinstitute.org). This variant was observed in 1 fetus and 1 older proband with clinical presentations that lacked clear associations with a RASopathy. In summary, this variant meets criteria to be classified as benign. ACMG/AMP Criteria applied: BA1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 11, 2025

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