NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Nov 21, 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:: RCV000991552.8

Allele description [Variation Report for NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)]

NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)

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.6125A>G (p.Asp2042Gly)

HGVS:

NC_000001.11:g.197103126T>C
NG_015867.1:g.48569A>G
NM_001206846.2:c.4066-6962A>G
NM_018136.5:c.6125A>GMANE SELECT
NP_060606.3:p.Asp2042Gly
NC_000001.10:g.197072256T>C
NM_018136.4:c.6125A>G

Protein change:

D2042G

Links:

dbSNP: rs150327858

NCBI 1000 Genomes Browser:

rs150327858

Molecular consequence:

NM_001206846.2:c.4066-6962A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018136.5:c.6125A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001143075	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Nov 29, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23611254, 26467025
SCV002337986	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 21, 2023)	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

SCV001143075

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Nov 29, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002337986

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 21, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.

Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13.

PubMed [citation]

PMID:: 23611254

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001143075.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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 Invitae, SCV002337986.3

#	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

Last Updated: May 19, 2024

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