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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2023
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:
RCV000536634.7

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:
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000626354Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 8, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.

Front Genet. 2021;12:698595. doi: 10.3389/fgene.2021.698595.

PubMed [citation]
PMID:
34326862
PMCID:
PMC8314385

Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.

J Genomics. 2021;9:43-54. doi: 10.7150/jgen.61713.

PubMed [citation]
PMID:
34646395
PMCID:
PMC8490085
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000626354.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 556 of the FANCM protein (p.Asp556Gly). This variant is present in population databases (rs148810507, gnomAD 0.04%). This missense change has been observed in individual(s) with personal and/or family history of breast cancer (PMID: 34326862, 34646395). ClinVar contains an entry for this variant (Variation ID: 456254). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: May 7, 2024