NM_001111067.4(ACVR1):c.79A>G (p.Lys27Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 22, 2023
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:: RCV003699966.3

Allele description [Variation Report for NM_001111067.4(ACVR1):c.79A>G (p.Lys27Glu)]

NM_001111067.4(ACVR1):c.79A>G (p.Lys27Glu)

Gene:

ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

Preferred name:

NM_001111067.4(ACVR1):c.79A>G (p.Lys27Glu)

HGVS:

NC_000002.12:g.157780589T>C
NG_008004.1:g.99523A>G
NM_001105.5:c.79A>G
NM_001111067.4:c.79A>GMANE SELECT
NM_001347663.1:c.79A>G
NM_001347664.1:c.79A>G
NM_001347665.1:c.79A>G
NM_001347666.1:c.79A>G
NM_001347667.2:c.79A>G
NP_001096.1:p.Lys27Glu
NP_001104537.1:p.Lys27Glu
NP_001334592.1:p.Lys27Glu
NP_001334593.1:p.Lys27Glu
NP_001334594.1:p.Lys27Glu
NP_001334595.1:p.Lys27Glu
NP_001334596.1:p.Lys27Glu
NC_000002.11:g.158637101T>C

Protein change:

K27E

Molecular consequence:

NM_001105.5:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001111067.4:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347663.1:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347664.1:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347665.1:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347666.1:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347667.2:c.79A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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ASS1 argininosuccinate synthase 1 [Homo sapiens]
ASS1 argininosuccinate synthase 1 [Homo sapiens]
Gene ID:445

Gene
Agaricus griseicephalus strain RWK_2046 internal transcribed spacer 1, partial s...
Agaricus griseicephalus strain RWK_2046 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1044696962|gb|KJ877764.1|

Nucleotide
Agaricus moellerianus strain GQ-1 internal transcribed spacer 1, partial sequenc...
Agaricus moellerianus strain GQ-1 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1044696965|gb|KJ877767.1|

Nucleotide
SRP082657 (2)
SRA
dystrobrevin beta isoform 7 [Homo sapiens]
dystrobrevin beta isoform 7 [Homo sapiens]
gi|372626416|ref|NP_001243233.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004461061	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 22, 2023)	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

SCV004461061

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 22, 2023)

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, SCV004461061.1

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

Description

This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 27 of the ACVR1 protein (p.Lys27Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACVR1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. 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.

#	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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