NM_004517.4(ILK):c.35A>G (p.Asn12Ser) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001364575.9

Allele description [Variation Report for NM_004517.4(ILK):c.35A>G (p.Asn12Ser)]

NM_004517.4(ILK):c.35A>G (p.Asn12Ser)

Genes:

LOC130005201:ATAC-STARR-seq lymphoblastoid active region 4345 [Gene]
ILK:integrin linked kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_004517.4(ILK):c.35A>G (p.Asn12Ser)

HGVS:

NC_000011.10:g.6604306A>G
NG_029702.1:g.5573A>G
NM_001014794.3:c.35A>G
NM_001014795.3:c.35A>G
NM_001278441.2:c.35A>G
NM_001278442.2:c.-202A>G
NM_004517.4:c.35A>GMANE SELECT
NP_001014794.1:p.Asn12Ser
NP_001014795.1:p.Asn12Ser
NP_001265370.1:p.Asn12Ser
NP_004508.1:p.Asn12Ser
LRG_444:g.5573A>G
NC_000011.9:g.6625536A>G

Protein change:

N12S

Links:

dbSNP: rs765978022

NCBI 1000 Genomes Browser:

rs765978022

Molecular consequence:

NM_001278442.2:c.-202A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001014794.3:c.35A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001014795.3:c.35A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278441.2:c.35A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004517.4:c.35A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001560731	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 18, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001560731

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 18, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001560731.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ILK-related conditions. This variant is present in population databases (rs765978022, ExAC 0.004%). This sequence change replaces asparagine with serine at codon 12 of the ILK protein (p.Asn12Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

#	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: Sep 29, 2024

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