NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jan 19, 2024
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:: RCV000909704.20

Allele description

NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)

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.1717C>T (p.Arg573Trp)

HGVS:

NC_000001.11:g.197142535G>A
NG_015867.1:g.9160C>T
NM_001206846.2:c.1717C>T
NM_018136.5:c.1717C>TMANE SELECT
NP_001193775.1:p.Arg573Trp
NP_060606.3:p.Arg573Trp
NC_000001.10:g.197111665G>A
NM_018136.4:c.1717C>T

Protein change:

R573W

Links:

dbSNP: rs144049904

NCBI 1000 Genomes Browser:

rs144049904

Molecular consequence:

NM_001206846.2:c.1717C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018136.5:c.1717C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MAG: Gammaproteobacteria bacterium HGW-Gammaproteobacteria-4 08E140C01_scaffold_...
MAG: Gammaproteobacteria bacterium HGW-Gammaproteobacteria-4 08E140C01_scaffold_523, whole genome shotgun sequence
gi|1308620924|gb|PGZC01000005.1||gn :PGZC01|08E140C01_scaffold_523

Nucleotide
MAG: Gammaproteobacteria bacterium HGW-Gammaproteobacteria-4 08E140C01_scaffold_...
MAG: Gammaproteobacteria bacterium HGW-Gammaproteobacteria-4 08E140C01_scaffold_713, whole genome shotgun sequence
gi|1308620270|gb|PGZC01000012.1||gn :PGZC01|08E140C01_scaffold_713

Nucleotide
Homo sapiens zinc finger imprinted 2 (ZIM2), transcript variant 5, mRNA
Homo sapiens zinc finger imprinted 2 (ZIM2), transcript variant 5, mRNA
gi|1620863311|ref|NM_001369771.1|

Nucleotide
UPF0179 family protein [Methanosalsum zhilinae]
UPF0179 family protein [Methanosalsum zhilinae]
gi|503663710|ref|WP_013897786.1|

Protein
receptor-type tyrosine-protein phosphatase H isoform X10 [Homo sapiens]
receptor-type tyrosine-protein phosphatase H isoform X10 [Homo sapiens]
gi|2462566576|ref|XP_054177565.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000512108	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Apr 1, 2019)	germline	clinical testing	Citation Link,
SCV001054523	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 19, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004125209	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000512108

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Apr 1, 2019)

germline

clinical testing

Citation Link,

SCV001054523

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 19, 2024)

germline

clinical testing

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

SCV004125209

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Jun 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	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 GeneDx, SCV000512108.6

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001054523.5

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004125209.9

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

Description

ASPM: BP4, 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		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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