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NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) AND not specified

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000145012.14

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000192048Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192048.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024