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NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) AND Fanconi anemia complementation group A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001256405.3

Allele description [Variation Report for NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)]

NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)

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.3581C>T (p.Pro1194Leu)
HGVS:
  • NC_000016.10:g.89745004G>A
  • NG_011706.1:g.76654C>T
  • NM_000135.4:c.3581C>TMANE SELECT
  • NM_001286167.3:c.3581C>T
  • NP_000126.2:p.Pro1194Leu
  • NP_001273096.1:p.Pro1194Leu
  • LRG_495t1:c.3581C>T
  • LRG_495:g.76654C>T
  • NC_000016.9:g.89811412G>A
  • NM_000135.2:c.3581C>T
Protein change:
P1194L
Links:
dbSNP: rs1555536390
NCBI 1000 Genomes Browser:
rs1555536390
Molecular consequence:
  • NM_000135.4:c.3581C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.3581C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia complementation group A
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425849Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 28, 2020) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T.

Hum Mutat. 2004 Dec;24(6):481-90.

PubMed [citation]
PMID:
15523645

Details of each submission

From Leiden Open Variation Database, SCV001425849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

Last Updated: Feb 14, 2024