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NM_017951.5(SMPD4):c.1174del (p.Ala392fs) AND Abnormal cerebral morphology

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001526551.3

Allele description [Variation Report for NM_017951.5(SMPD4):c.1174del (p.Ala392fs)]

NM_017951.5(SMPD4):c.1174del (p.Ala392fs)

Gene:
SMPD4:sphingomyelin phosphodiesterase 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q21.1
Genomic location:
Preferred name:
NM_017951.5(SMPD4):c.1174del (p.Ala392fs)
HGVS:
  • NC_000002.12:g.130156599del
  • NG_053070.1:g.31152del
  • NM_001171083.2:c.985del
  • NM_017751.4:c.1204del
  • NM_017951.5:c.1174delMANE SELECT
  • NP_001164554.1:p.Ala329fs
  • NP_060221.2:p.Ala402fs
  • NP_060421.3:p.Ala392fs
  • NC_000002.11:g.130914172del
  • NM_017951.4:c.1291del
  • NR_033231.3:n.1149del
  • NR_033232.3:n.1129del
Protein change:
A329fs
Links:
dbSNP: rs2104814089
NCBI 1000 Genomes Browser:
rs2104814089
Molecular consequence:
  • NM_001171083.2:c.985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017751.4:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017951.5:c.1174del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_033231.3:n.1149del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_033232.3:n.1129del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Abnormal cerebral morphology
Synonyms:
Abnormality of the cerebrum
Identifiers:
MedGen: C4021762; Human Phenotype Ontology: HP:0002060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001736976Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicmaternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001736976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024