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NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 22, 2019
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:
RCV002415609.2

Allele description [Variation Report for NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)]

NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
HGVS:
  • NC_000016.10:g.89799635T>C
  • NG_011706.1:g.22023A>G
  • NM_000135.4:c.796A>GMANE SELECT
  • NM_001018112.3:c.796A>G
  • NM_001286167.3:c.796A>G
  • NM_001351830.2:c.700A>G
  • NP_000126.2:p.Thr266Ala
  • NP_001018122.1:p.Thr266Ala
  • NP_001273096.1:p.Thr266Ala
  • NP_001338759.1:p.Thr234Ala
  • LRG_495t1:c.796A>G
  • LRG_495:g.22023A>G
  • NC_000016.9:g.89866043T>C
  • NM_000135.2:c.796A>G
  • NM_000135.3:c.796A>G
  • O15360:p.Thr266Ala
Protein change:
T234A
Links:
UniProtKB: O15360#VAR_017496; dbSNP: rs7190823
NCBI 1000 Genomes Browser:
rs7190823
Molecular consequence:
  • NM_000135.4:c.796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018112.3:c.796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351830.2:c.700A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002677188Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 22, 2019) 		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, SCV002677188.2

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

Description

This alteration is classified as 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: Sep 29, 2024