NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 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:: RCV000523584.1

Allele description [Variation Report for NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro)]

NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro)

Gene:

AP2S1:adaptor related protein complex 2 subunit sigma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro)

HGVS:

NC_000019.10:g.46838765A>G
NG_033136.1:g.17182T>C
NM_001301076.3:c.350T>C
NM_001301078.3:c.344T>C
NM_001301081.3:c.308T>C
NM_004069.6:c.302T>CMANE SELECT
NM_021575.5:c.188T>C
NP_001288005.1:p.Leu117Pro
NP_001288007.1:p.Leu115Pro
NP_001288010.1:p.Leu103Pro
NP_004060.2:p.Leu101Pro
NP_067586.1:p.Leu63Pro
NC_000019.9:g.47342022A>G
NM_004069.4:c.302T>C

Protein change:

L101P

Links:

dbSNP: rs1555748483

NCBI 1000 Genomes Browser:

rs1555748483

Molecular consequence:

NM_001301076.3:c.350T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001301078.3:c.344T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001301081.3:c.308T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004069.6:c.302T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021575.5:c.188T>C - 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
SCV000618557	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618557

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 22, 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, SCV000618557.2

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

Description

The L101P variant in the AP2S1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L101P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L101P as a variant of uncertain significance.

#	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: Apr 23, 2022

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