NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV003808794.1

Allele description [Variation Report for NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)]

NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)

Genes:

LOC122128420:Sharpr-MPRA regulatory region 3144 [Gene]
GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)

HGVS:

NC_000001.11:g.147758401_147758412del
NG_009369.2:g.19963_19974del
NG_076440.1:g.121_132del
NM_005266.7:c.827_838del
NM_181703.4:c.827_838delMANE SELECT
NP_005257.2:p.Gly276_Phe280delinsVal
NP_859054.1:p.Gly276_Phe280delinsVal
NC_000001.10:g.147230509_147230520del

Molecular consequence:

NM_005266.7:c.827_838del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_181703.4:c.827_838del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Atrial standstill 1 (ATRST1)
Synonyms:: ATRIAL CARDIOMYOPATHY WITH HEART BLOCK; CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE; Atrial standstill, digenic (GJA5/SCN5A)
Identifiers:: MONDO: MONDO:0007171; MedGen: C4551959; Orphanet: 1344; OMIM: 108770

Name:: Atrial fibrillation, familial, 11 (ATFB11)
Identifiers:: MONDO: MONDO:0013544; MedGen: C3279693; OMIM: 614049

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004595772	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 17, 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

SCV004595772

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 17, 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 Invitae, SCV004595772.1

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

Description

This variant, c.827_838del, is a complex sequence change that results in the deletion of 5 and insertion of 1 amino acid(s) in the GJA5 protein (p.Gly276_Phe280delinsVal). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GJA5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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: Mar 5, 2024

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