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NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) AND Fanconi anemia

Germline classification:
Uncertain significance (1 submission)
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:
RCV001615377.2

Allele description [Variation Report for NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)]

NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)

Gene:
FANCE:FA complementation group E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)
HGVS:
  • NC_000006.12:g.35455989T>C
  • NG_011708.1:g.8629T>C
  • NM_021922.3:c.491T>CMANE SELECT
  • NP_068741.1:p.Leu164Pro
  • LRG_498:g.8629T>C
  • NC_000006.11:g.35423766T>C
Protein change:
L164P
Links:
dbSNP: rs1767316710
NCBI 1000 Genomes Browser:
rs1767316710
Molecular consequence:
  • NM_021922.3:c.491T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Fanconi anemia (FA)
Synonyms:
Fanconi pancytopenia; Fanconi's anemia
Identifiers:
MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001832596Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Asiangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology, SCV001832596.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asian2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2023