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NM_015100.4(POGZ):c.2963A>G (p.Asn988Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 20, 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:
RCV004512166.1

Allele description [Variation Report for NM_015100.4(POGZ):c.2963A>G (p.Asn988Ser)]

NM_015100.4(POGZ):c.2963A>G (p.Asn988Ser)

Gene:
POGZ:pogo transposable element derived with ZNF domain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_015100.4(POGZ):c.2963A>G (p.Asn988Ser)
HGVS:
  • NC_000001.11:g.151406072T>C
  • NG_046601.1:g.58394A>G
  • NM_001194937.2:c.2936A>G
  • NM_001194938.2:c.2777A>G
  • NM_001410860.1:c.2984A>G
  • NM_015100.4:c.2963A>GMANE SELECT
  • NM_145796.4:c.2678A>G
  • NM_207171.2:c.2804A>G
  • NP_001181866.1:p.Asn979Ser
  • NP_001181867.1:p.Asn926Ser
  • NP_001397789.1:p.Asn995Ser
  • NP_055915.2:p.Asn988Ser
  • NP_665739.3:p.Asn893Ser
  • NP_997054.1:p.Asn935Ser
  • NC_000001.10:g.151378548T>C
  • NM_015100.3:c.2963A>G
Protein change:
N893S
Molecular consequence:
  • NM_001194937.2:c.2936A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001194938.2:c.2777A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410860.1:c.2984A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015100.4:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145796.4:c.2678A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207171.2:c.2804A>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
SCV005008883Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 20, 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, SCV005008883.1

#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