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NM_001330574.2(ZNF711):c.2050A>G (p.Ser684Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 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:
RCV003364849.2

Allele description [Variation Report for NM_001330574.2(ZNF711):c.2050A>G (p.Ser684Gly)]

NM_001330574.2(ZNF711):c.2050A>G (p.Ser684Gly)

Gene:
ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_001330574.2(ZNF711):c.2050A>G (p.Ser684Gly)
HGVS:
  • NC_000023.11:g.85271454A>G
  • NG_012535.1:g.32464A>G
  • NM_001330574.2:c.2050A>GMANE SELECT
  • NM_001375431.1:c.2050A>G
  • NM_001375432.1:c.2050A>G
  • NM_001375433.1:c.2050A>G
  • NM_001375434.1:c.1912A>G
  • NM_001375435.1:c.1912A>G
  • NM_001375436.1:c.1912A>G
  • NM_001375437.1:c.1912A>G
  • NM_021998.5:c.1912A>G
  • NP_001317503.1:p.Ser684Gly
  • NP_001362360.1:p.Ser684Gly
  • NP_001362361.1:p.Ser684Gly
  • NP_001362362.1:p.Ser684Gly
  • NP_001362363.1:p.Ser638Gly
  • NP_001362364.1:p.Ser638Gly
  • NP_001362365.1:p.Ser638Gly
  • NP_001362366.1:p.Ser638Gly
  • NP_068838.3:p.Ser638Gly
  • NC_000023.10:g.84526460A>G
  • NM_021998.4:c.1912A>G
Protein change:
S638G
Molecular consequence:
  • NM_001330574.2:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375431.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375432.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375433.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375434.1:c.1912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375435.1:c.1912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375436.1:c.1912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375437.1:c.1912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021998.5:c.1912A>G - 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
SCV004085516Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 25, 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, SCV004085516.2

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

Description

The c.1912A>G (p.S638G) alteration is located in exon 9 (coding exon 7) of the ZNF711 gene. This alteration results from a A to G substitution at nucleotide position 1912, causing the serine (S) at amino acid position 638 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024