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NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 6, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003002828.4

Allele description [Variation Report for NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)]

NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)

Gene:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
HGVS:
  • NC_000011.10:g.17428312C>T
  • NG_008867.1:g.53591G>A
  • NM_000352.5:c.2017G>A
  • NM_000352.6:c.2017G>AMANE SELECT
  • NM_001287174.3:c.2017G>A
  • NM_001351295.2:c.2083G>A
  • NM_001351296.2:c.2014G>A
  • NM_001351297.2:c.2014G>A
  • NP_000343.2:p.Asp673Asn
  • NP_001274103.1:p.Asp673Asn
  • NP_001338224.1:p.Asp695Asn
  • NP_001338225.1:p.Asp672Asn
  • NP_001338226.1:p.Asp672Asn
  • LRG_790t1:c.2017G>A
  • LRG_790t2:c.2017G>A
  • LRG_790:g.53591G>A
  • LRG_790p1:p.Asp673Asn
  • LRG_790p2:p.Asp673Asn
  • NC_000011.9:g.17449859C>T
  • NR_147094.2:n.2083G>A
Protein change:
D672N
Molecular consequence:
  • NM_000352.6:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.2014G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.2014G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.2083G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003299800Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Sep 10, 2021)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004238852Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 6, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS, Caetano LA, Costa-Riquetto AD, Franco PC, Dotto RP, Reis AF, Weinert LS, Silveiro SP, Vendramini MF, do Prado FA, Abrahão GCP, de Almeida AGFP, Tavares MDGR, Gonçalves WRB, Santomauro Junior AC, Halpern B, Jorge AAL, Nery M, Teles MG.

Mol Genet Genomic Med. 2019 Dec;7(12):e962. doi: 10.1002/mgg3.962. Epub 2019 Oct 8.

PubMed [citation]
PMID:
31595705
PMCID:
PMC6900361

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
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003299800.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces aspartic acid with asparagine at codon 673 of the ABCC8 protein (p.Asp673Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs777986828, ExAC 0.003%). This missense change has been observed in individual(s) with ABCC8-related conditions (PMID: 31595705). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ABCC8 protein function. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV004238852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024