NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) AND Microcephaly 5, primary, autosomal recessive

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 11, 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:: RCV000145115.7

Allele description [Variation Report for NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr)]

NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr)

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.3698T>C (p.Met1233Thr)

HGVS:

NC_000001.11:g.197122202A>G
NG_015867.1:g.29493T>C
NM_001206846.2:c.3698T>C
NM_018136.5:c.3698T>CMANE SELECT
NP_001193775.1:p.Met1233Thr
NP_060606.3:p.Met1233Thr
NC_000001.10:g.197091332A>G
NM_018136.4:c.3698T>C

Protein change:

M1233T

Links:

dbSNP: rs181039922

NCBI 1000 Genomes Browser:

rs181039922

Molecular consequence:

NM_001206846.2:c.3698T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018136.5:c.3698T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Microcephaly 5, primary, autosomal recessive (MCPH5)
Identifiers:: MONDO: MONDO:0012106; MedGen: C1837501; Orphanet: 2512; OMIM: 608716

Recent activity

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Mus musculus gametogenetin binding protein 2 (Ggnbp2), transcript variant 3, mRN...
Mus musculus gametogenetin binding protein 2 (Ggnbp2), transcript variant 3, mRNA
gi|1396658723|ref|NM_153144.3|

Nucleotide
BX846567 Soares NXEG Xenopus laevis cDNA clone IMAGp998G1510553; IMAGE:4678310 5...
BX846567 Soares NXEG Xenopus laevis cDNA clone IMAGp998G1510553; IMAGE:4678310 5', mRNA sequence
gi|39736102|gnl|dbEST|20903304|emb| 567.1|

Nucleotide
AGENCOURT_19146396 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7209209 5', mRN...
AGENCOURT_19146396 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7209209 5', mRNA sequence
gi|43393672|gnl|dbEST|21714539|gb|C 40.1|

Nucleotide
AGENCOURT_39736492 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7764245 3', mR...
AGENCOURT_39736492 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7764245 3', mRNA sequence
gi|56704778|gnl|dbEST|26754690|gb|C 56.1|

Nucleotide
BX773109 XGC-egg Xenopus tropicalis cDNA clone TEgg031o05 3', mRNA sequence
BX773109 XGC-egg Xenopus tropicalis cDNA clone TEgg031o05 3', mRNA sequence
gi|39680314|gnl|dbEST|20852345|emb| 109.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000192158	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 5, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004178698	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 11, 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

SCV000192158

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 5, 2014)

germline

clinical testing

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

SCV004178698

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 11, 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	no	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192158.1

#	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 Genome-Nilou Lab, SCV004178698.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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