U.S. flag

An official website of the United States government

NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2021
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:
RCV002255431.2

Allele description [Variation Report for NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)]

NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)

Gene:
FANCM:FA complementation group M [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.2
Genomic location:
Preferred name:
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
HGVS:
  • NC_000014.9:g.45164444A>G
  • NG_007417.1:g.33512A>G
  • NM_001308133.2:c.1589A>G
  • NM_001308134.2:c.1667A>G
  • NM_020937.4:c.1667A>GMANE SELECT
  • NP_001295062.1:p.Asp530Gly
  • NP_001295063.1:p.Asp556Gly
  • NP_065988.1:p.Asp556Gly
  • LRG_502t1:c.1667A>G
  • LRG_502:g.33512A>G
  • NC_000014.8:g.45633647A>G
  • NM_020937.2:c.1667A>G
  • NM_020937.3:c.1667A>G
Protein change:
D530G
Links:
dbSNP: rs148810507
NCBI 1000 Genomes Browser:
rs148810507
Molecular consequence:
  • NM_001308133.2:c.1589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308134.2:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020937.4:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002527316Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Uncertain significance
(Jun 23, 2021)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002527316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024