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NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 25, 2016
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:
RCV002312625.9

Allele description [Variation Report for NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)]

NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)

Gene:
AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)
HGVS:
  • NC_000023.11:g.15845903A>G
  • NG_009274.2:g.14075T>C
  • NM_001272071.2:c.288T>CMANE SELECT
  • NM_001368994.1:c.288T>C
  • NM_001369007.1:c.288T>C
  • NM_001369008.1:c.288T>C
  • NM_003916.5:c.288T>C
  • NP_001259000.1:p.Ser96=
  • NP_001355923.1:p.Ser96=
  • NP_001355936.1:p.Ser96=
  • NP_001355937.1:p.Ser96=
  • NP_003907.3:p.Ser96=
  • NC_000023.10:g.15864026A>G
  • NG_009274.1:g.14075T>C
  • NM_003916.3:c.288T>C
  • NM_003916.4:c.288T>C
  • NR_160932.1:n.414T>C
  • NR_160933.1:n.414T>C
Links:
dbSNP: rs61741688
NCBI 1000 Genomes Browser:
rs61741688
Molecular consequence:
  • NR_160932.1:n.414T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160933.1:n.414T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001272071.2:c.288T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368994.1:c.288T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369007.1:c.288T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369008.1:c.288T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003916.5:c.288T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000846646Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jan 25, 2016) 		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, SCV000846646.5

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

Description

This alteration is classified as 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: Nov 10, 2024