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NM_018136.5(ASPM):c.715C>T (p.Leu239Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 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:
RCV004420909.1

Allele description [Variation Report for NM_018136.5(ASPM):c.715C>T (p.Leu239Phe)]

NM_018136.5(ASPM):c.715C>T (p.Leu239Phe)

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.715C>T (p.Leu239Phe)
HGVS:
  • NC_000001.11:g.197143537G>A
  • NG_015867.1:g.8158C>T
  • NM_001206846.2:c.715C>T
  • NM_018136.5:c.715C>TMANE SELECT
  • NP_001193775.1:p.Leu239Phe
  • NP_060606.3:p.Leu239Phe
  • NC_000001.10:g.197112667G>A
  • NM_018136.4:c.715C>T
Protein change:
L239F
Molecular consequence:
  • NM_001206846.2:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018136.5:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004909768Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 22, 2023) 		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, SCV004909768.1

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

Description

The c.715C>T (p.L239F) alteration is located in exon 3 (coding exon 3) of the ASPM gene. This alteration results from a C to T substitution at nucleotide position 715, causing the leucine (L) at amino acid position 239 to be replaced by a phenylalanine (F). 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 7, 2024