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NM_020937.4(FANCM):c.2268C>A (p.Arg756=) AND not provided

Germline classification:
Likely benign (4 submissions)
Last evaluated:
Feb 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001090528.23

Allele description [Variation Report for NM_020937.4(FANCM):c.2268C>A (p.Arg756=)]

NM_020937.4(FANCM):c.2268C>A (p.Arg756=)

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.2268C>A (p.Arg756=)
HGVS:
  • NC_000014.9:g.45173162C>A
  • NG_007417.1:g.42230C>A
  • NM_001308133.2:c.2190C>A
  • NM_020937.4:c.2268C>AMANE SELECT
  • NP_001295062.1:p.Arg730=
  • NP_065988.1:p.Arg756=
  • LRG_502t1:c.2268C>A
  • LRG_502:g.42230C>A
  • NC_000014.8:g.45642365C>A
  • NM_020937.2:c.2268C>A
  • NM_020937.3:c.2268C>A
Links:
dbSNP: rs146061601
NCBI 1000 Genomes Browser:
rs146061601
Molecular consequence:
  • NM_001308133.2:c.2190C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020937.4:c.2268C>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
13

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001246132CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2024)
germlineclinical testing

Citation Link,

SCV001793387GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 14, 2020)
germlineclinical testing

Citation Link,

SCV001977745Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001980420Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes13not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246132.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided13not providednot providedclinical testingnot provided

Description

FANCM: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided13not providednot providednot provided

From GeneDx, SCV001793387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001977745.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001980420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024