NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 14, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000760749.3

Allele description [Variation Report for NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter)]

NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter)

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.3229A>T (p.Lys1077Ter)

HGVS:

NC_000001.11:g.197124271T>A
NG_015867.1:g.27424A>T
NM_001206846.2:c.3229A>T
NM_018136.5:c.3229A>TMANE SELECT
NP_001193775.1:p.Lys1077Ter
NP_060606.3:p.Lys1077Ter
NC_000001.10:g.197093401T>A
NM_018136.4:c.3229A>T

Protein change:

K1077*

Links:

dbSNP: rs139317695

NCBI 1000 Genomes Browser:

rs139317695

Molecular consequence:

NM_001206846.2:c.3229A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018136.5:c.3229A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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homo sapiens[Organism] AND CCDC19 AND (alive[prop]) (3)
Gene
uncharacterized protein LOC111477668 [Cucurbita maxima]
uncharacterized protein LOC111477668 [Cucurbita maxima]
gi|1280973467|ref|XP_022977309.1|

Protein
inorganic pyrophosphatase TTM2 isoform X2 [Cucumis melo]
inorganic pyrophosphatase TTM2 isoform X2 [Cucumis melo]
gi|659091356|ref|XP_008446505.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890643	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890643

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 14, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000890643.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 25, 2023

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