NM_004758.4(TSPOAP1):c.3758G>A (p.Arg1253His) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000885265.14

Allele description [Variation Report for NM_004758.4(TSPOAP1):c.3758G>A (p.Arg1253His)]

NM_004758.4(TSPOAP1):c.3758G>A (p.Arg1253His)

Gene:

TSPOAP1:TSPO associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_004758.4(TSPOAP1):c.3758G>A (p.Arg1253His)

HGVS:

NC_000017.11:g.58310100C>T
NM_001261835.2:c.3758G>A
NM_004758.4:c.3758G>AMANE SELECT
NM_024418.3:c.3578G>A
NP_001248764.1:p.Arg1253His
NP_004749.2:p.Arg1253His
NP_077729.1:p.Arg1193His
NC_000017.10:g.56387461C>T
NM_004758.3:c.3758G>A

Protein change:

R1193H

Links:

dbSNP: rs372749390

NCBI 1000 Genomes Browser:

rs372749390

Molecular consequence:

NM_001261835.2:c.3758G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004758.4:c.3758G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024418.3:c.3578G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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TSA: Cercis gigantea Cgm32374_c1.2 transcribed RNA sequence
TSA: Cercis gigantea Cgm32374_c1.2 transcribed RNA sequence
gi|691478132|gb|GAOK01022607.1||gnl GAOK01|Cgm32374_c1.2

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001028700	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jun 26, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004145731	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001028700

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jun 26, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004145731

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Feb 1, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001028700.1

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

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

From CeGaT Center for Human Genetics Tuebingen, SCV004145731.10

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

Description

TSPOAP1: BS1, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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