NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 7, 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:: RCV000520980.1

Allele description [Variation Report for NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser)]

NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser)

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.1940A>G (p.Asn647Ser)

HGVS:

NC_000023.11:g.85271344A>G
NG_012535.1:g.32354A>G
NM_001330574.2:c.1940A>GMANE SELECT
NM_021998.5:c.1802A>G
NP_001317503.1:p.Asn647Ser
NP_068838.3:p.Asn601Ser
NC_000023.10:g.84526350A>G
NM_021998.4:c.1802A>G

Protein change:

N601S

Links:

dbSNP: rs760346140

NCBI 1000 Genomes Browser:

rs760346140

Molecular consequence:

NM_001330574.2:c.1940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021998.5:c.1802A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000618172	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618172

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000618172.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

A variant of uncertain significance has been identified in the ZNF711 gene. The N601S variant has been reported previously in association with intellectual disability; however, additional information was not provided (Niranjan et al., 2015). The N601S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N601S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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