U.S. flag

An official website of the United States government

NM_017951.5(SMPD4):c.1174del (p.Ala392fs) AND Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2020
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:
RCV003151858.2

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:
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Identifiers:
MONDO: MONDO:0032838; MedGen: C5231431; OMIM: 618622

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003840277Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 25, 2020)
biparentalresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot providednot providednot providednot providednot providedresearch

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

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, et al.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PubMed [citation]
PMID:
31495489
PMCID:
PMC6817560

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV003840277.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

This variant was observed in compound heterozygosity with variant c.1257_1259del

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

Last Updated: Sep 16, 2024