NM_018136.5(ASPM):c.937A>G (p.Ile313Val) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Aug 3, 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:: RCV000914111.12

Allele description [Variation Report for NM_018136.5(ASPM):c.937A>G (p.Ile313Val)]

NM_018136.5(ASPM):c.937A>G (p.Ile313Val)

Gene:

ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_018136.5(ASPM):c.937A>G (p.Ile313Val)

HGVS:

NC_000001.11:g.197143315T>C
NG_015867.1:g.8380A>G
NM_001206846.2:c.937A>G
NM_018136.5:c.937A>GMANE SELECT
NP_001193775.1:p.Ile313Val
NP_060606.3:p.Ile313Val
NC_000001.10:g.197112445T>C
NM_018136.4:c.937A>G
Q8IZT6:p.Ile313Val

Protein change:

I313V

Links:

UniProtKB: Q8IZT6#VAR_047263; dbSNP: rs12025066

NCBI 1000 Genomes Browser:

rs12025066

Molecular consequence:

NM_001206846.2:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018136.5:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

BJ096991 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ096991 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL155o02 5', mRNA sequence
gi|17598146|gnl|dbEST|10565314|dbj| 991.1|

Nucleotide
AGENCOURT_54841354 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7982822 5', m...
AGENCOURT_54841354 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7982822 5', mRNA sequence
gi|70903364|gnl|dbEST|30218039|gb|D 52.1|

Nucleotide
JGI_CAAO5147.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO5147 3', mRNA...
JGI_CAAO5147.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO5147 3', mRNA sequence
gi|58726605|gnl|dbEST|27643766|gb|C 47.1|

Nucleotide
AGENCOURT_54841514 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7982781 5', m...
AGENCOURT_54841514 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7982781 5', mRNA sequence
gi|70902682|gnl|dbEST|30217351|gb|D 70.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001059271	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001791938	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 13, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001059271

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 3, 2023)

germline

clinical testing

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

SCV001791938

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 13, 2019)

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
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, SCV001059271.5

#	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 GeneDx, SCV001791938.1

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine