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NM_000136.3(FANCC):c.1257C>A (p.Pro419=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 31, 2017
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:
RCV000610193.8

Allele description [Variation Report for NM_000136.3(FANCC):c.1257C>A (p.Pro419=)]

NM_000136.3(FANCC):c.1257C>A (p.Pro419=)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1257C>A (p.Pro419=)
HGVS:
  • NC_000009.12:g.95111535G>T
  • NG_011707.1:g.211175C>A
  • NM_000136.3:c.1257C>AMANE SELECT
  • NM_001243743.2:c.1257C>A
  • NM_001243744.2:c.1257C>A
  • NP_000127.2:p.Pro419=
  • NP_001230672.1:p.Pro419=
  • NP_001230673.1:p.Pro419=
  • LRG_497t1:c.1257C>A
  • LRG_497:g.211175C>A
  • NC_000009.11:g.97873817G>T
  • NM_000136.2:c.1257C>A
Links:
dbSNP: rs878853669
NCBI 1000 Genomes Browser:
rs878853669
Molecular consequence:
  • NM_000136.3:c.1257C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001243743.2:c.1257C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001243744.2:c.1257C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000728404GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 31, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000728404.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 26, 2024