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NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 3, 2022
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:
RCV002450850.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)]

NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)

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.3435C>T (p.Ser1145=)
HGVS:
  • NC_000011.10:g.17404634G>A
  • NG_008867.1:g.77269C>T
  • NM_000352.6:c.3435C>TMANE SELECT
  • NM_001287174.3:c.3438C>T
  • NM_001351295.2:c.3501C>T
  • NM_001351296.2:c.3435C>T
  • NM_001351297.2:c.3432C>T
  • NP_000343.2:p.Ser1145=
  • NP_001274103.1:p.Ser1146=
  • NP_001338224.1:p.Ser1167=
  • NP_001338225.1:p.Ser1145=
  • NP_001338226.1:p.Ser1144=
  • LRG_790t1:c.3435C>T
  • LRG_790t2:c.3438C>T
  • LRG_790:g.77269C>T
  • LRG_790p1:p.Ser1145=
  • LRG_790p2:p.Ser1146=
  • NC_000011.9:g.17426181G>A
  • NM_000352.3:c.3435C>T
  • NM_000352.4:c.3435C>T
  • NR_147094.2:n.3584C>T
Links:
dbSNP: rs371089976
NCBI 1000 Genomes Browser:
rs371089976
Molecular consequence:
  • NR_147094.2:n.3584C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000352.6:c.3435C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287174.3:c.3438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351295.2:c.3501C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351296.2:c.3435C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351297.2:c.3432C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002614784Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002614784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024