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NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 13, 2015
Accession:
VCV000234435.2
Variation ID:
234435
Description:
2bp deletion
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NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs)

Allele ID
231461
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
1q31.3
Genomic location
1: 197103067-197103068 (GRCh38) GRCh38 UCSC
1: 197072197-197072198 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.197072198_197072199del
NC_000001.11:g.197103068_197103069del
NM_018136.5:c.6183_6184del MANE Select NP_060606.3:p.Lys2062fs frameshift
... more HGVS
Protein change
K2062fs
Other names
-
Canonical SPDI
NC_000001.11:197103066:TCT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs750664956
ClinGen: CA1309619
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 13, 2015 RCV000217980.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ASPM - - GRCh38
GRCh37
856 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 13, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279217.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.6183_6184delGA mutation in the ASPM gene causes a frameshift starting with codon Lysine 2062, changes this amino acid to an Isoleucine residue and creates … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs750664956...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 07, 2021