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NM_001109809.5(ZFP57):c.1426C>T (p.Arg476Trp) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 15, 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:
RCV004486062.1

Allele description [Variation Report for NM_001109809.5(ZFP57):c.1426C>T (p.Arg476Trp)]

NM_001109809.5(ZFP57):c.1426C>T (p.Arg476Trp)

Gene:
ZFP57:ZFP57 zinc finger protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.1
Genomic location:
Preferred name:
NM_001109809.5(ZFP57):c.1426C>T (p.Arg476Trp)
HGVS:
  • NC_000006.12:g.29672685G>A
  • NG_013045.1:g.9470C>T
  • NG_031873.1:g.20705G>A
  • NM_001109809.5:c.1426C>TMANE SELECT
  • NM_001366333.2:c.1210C>T
  • NP_001103279.2:p.Arg476Trp
  • NP_001353262.1:p.Arg404Trp
  • NC_000006.11:g.29640462G>A
  • NM_001109809.2:c.1426C>T
Protein change:
R404W
Molecular consequence:
  • NM_001109809.5:c.1426C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366333.2:c.1210C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004982817Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004982817.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024