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NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2022
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:
RCV003151085.3

Allele description [Variation Report for NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)]

NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)

Genes:
LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
HGVS:
  • NC_000003.12:g.10032949C>T
  • NG_007311.1:g.11521C>T
  • NG_046754.1:g.2103C>T
  • NM_001018115.3:c.182C>TMANE SELECT
  • NM_001319984.2:c.182C>T
  • NM_001374253.1:c.182C>T
  • NM_001374254.1:c.182C>T
  • NM_001374255.1:c.182C>T
  • NM_033084.4:c.182C>T
  • NM_033084.6:c.182C>T
  • NP_001018125.1:p.Thr61Met
  • NP_001306913.1:p.Thr61Met
  • NP_001361182.1:p.Thr61Met
  • NP_001361183.1:p.Thr61Met
  • NP_001361184.1:p.Thr61Met
  • NP_149075.2:p.Thr61Met
  • LRG_306t2:c.182C>T
  • LRG_306:g.11521C>T
  • NC_000003.11:g.10074633C>T
  • NM_001018115.2:c.182C>T
  • NM_033084.3:c.182C>T
Protein change:
T61M
Links:
dbSNP: rs35110529
NCBI 1000 Genomes Browser:
rs35110529
Molecular consequence:
  • NM_001018115.3:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319984.2:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374253.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374254.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374255.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033084.6:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839514Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jun 1, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839514.1

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

Description

DNA sequence analysis of the FANCD2 gene demonstrated a sequence change, c.182C>T, in exon 3 that results in an amino acid change, p.Thr61Met. This sequence change does not appear to have been previously described in individuals with FANCD2-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.4% in the Ashkenazi Jewish subpopulation (dbSNP rs35110529). The p.Thr61Met change affects a poorly conserved amino acid residue located in a domain of the FANCD2 protein that is not known to be functional. The p.Thr61Met substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Thr61Met change remains unknown at this time.

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

Last Updated: Oct 20, 2024