NM_030957.4(ADAMTS10):c.3262A>G (p.Ser1088Gly) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 10, 2022
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:: RCV000730483.7

Allele description [Variation Report for NM_030957.4(ADAMTS10):c.3262A>G (p.Ser1088Gly)]

NM_030957.4(ADAMTS10):c.3262A>G (p.Ser1088Gly)

Gene:

ADAMTS10:ADAM metallopeptidase with thrombospondin type 1 motif 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_030957.4(ADAMTS10):c.3262A>G (p.Ser1088Gly)

HGVS:

NC_000019.10:g.8580943T>C
NG_011840.2:g.34760A>G
NG_052844.1:g.1505A>G
NM_001282352.2:c.1723A>G
NM_030957.2:c.3262A>G
NM_030957.4:c.3262A>GMANE SELECT
NP_001269281.1:p.Ser575Gly
NP_112219.3:p.Ser1088Gly
NC_000019.9:g.8645827T>C

Protein change:

S1088G

Links:

dbSNP: rs200639529

NCBI 1000 Genomes Browser:

rs200639529

Molecular consequence:

NM_001282352.2:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_030957.4:c.3262A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus HIV TAT specific factor 1 (Htatsf1), transcript variant 1, mRNA
Mus musculus HIV TAT specific factor 1 (Htatsf1), transcript variant 1, mRNA
gi|322306252|ref|NM_028242.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000858221	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Dec 7, 2017)	germline	clinical testing	Citation Link,
SCV002149287	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000858221

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 7, 2017)

germline

clinical testing

Citation Link,

SCV002149287

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 10, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	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 Eurofins Ntd Llc (ga), SCV000858221.1

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

#	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		1	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002149287.2

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

Description

This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1088 of the ADAMTS10 protein (p.Ser1088Gly). This variant is present in population databases (rs200639529, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADAMTS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 595050). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

Last Updated: Sep 29, 2024

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