• delete

NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000429760.1

Allele description

NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)

Gene:
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
HGVS:
  • NC_000023.11:g.153954642G>A
  • NG_012513.1:g.21727C>T
  • NM_005334.3:c.3757C>TMANE SELECT
  • NP_005325.2:p.Arg1253Cys
  • NC_000023.10:g.153220093G>A
  • NM_005334.2:c.3757C>T
Protein change:
R1253C
Links:
dbSNP: rs199554411
NCBI 1000 Genomes Browser:
rs199554411
Molecular consequence:
  • NM_005334.3:c.3757C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000531655GeneDxcriteria provided, single submitter
Likely benign
(Sep 26, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000531655.4

#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: Jun 14, 2021

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