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NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 2021
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:
RCV002697528.2

Allele description [Variation Report for NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del)]

NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del)

Gene:
MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del)
HGVS:
  • NC_000008.11:g.6445067AAG[1]
  • NG_016619.2:g.43476AAG[1]
  • NG_016619.3:g.43442AAG[1]
  • NM_001172574.2:c.1345AAG[1]
  • NM_001172575.2:c.1201AAG[1]
  • NM_001322042.2:c.1345AAG[1]
  • NM_001322043.2:c.1339AAG[1]
  • NM_001322045.2:c.1243AAG[1]
  • NM_001363979.1:c.1345AAG[1]
  • NM_001363980.2:c.1345AAG[1]
  • NM_001410916.1:c.1345_1347AAG[1]
  • NM_001410917.1:c.1345_1347AAG[1]
  • NM_024596.5:c.1345AAG[1]MANE SELECT
  • NP_001166045.2:p.Lys450del
  • NP_001166046.1:p.Lys402del
  • NP_001308971.2:p.Lys450del
  • NP_001308972.2:p.Lys448del
  • NP_001308974.2:p.Lys416del
  • NP_001350908.1:p.Lys450del
  • NP_001350909.1:p.Lys450del
  • NP_001397845.1:p.Lys450del
  • NP_001397846.1:p.Lys450del
  • NP_078872.3:p.Lys450del
  • NC_000008.10:g.6302588AAG[1]
  • NM_024596.3:c.1348_1350delAAG
  • NR_136159.2:n.1271AAG[1]
Protein change:
K402del
Molecular consequence:
  • NM_001172574.2:c.1345AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001172575.2:c.1201AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322042.2:c.1345AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322043.2:c.1339AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322045.2:c.1243AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001363979.1:c.1345AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001363980.2:c.1345AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_024596.5:c.1345AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001410916.1:c.1345_1347AAG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001410917.1:c.1345_1347AAG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_136159.2:n.1271AAG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003563933Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003563933.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1348_1350delAAG () alteration is located in exon 8 (coding exon 8) of the MCPH1 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.1348 and c.1350, resulting in the deletion of <NA> residues. In addition, this alteration is predicted to be inconclusive by in silico analysis (Choi, 2012). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024