U.S. flag

An official website of the United States government

NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs) AND Microcephaly 15, primary, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002274820.1

Allele description [Variation Report for NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs)]

NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs)

Gene:
MFSD2A:MFSD2 lysolipid transporter A, lysophospholipid [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs)
HGVS:
  • NC_000001.11:g.39968602_39968651del
  • NG_053084.1:g.18491_18540del
  • NM_001136493.3:c.1425_1474del
  • NM_001287808.2:c.918_967del
  • NM_001287809.2:c.1269_1318del
  • NM_001349821.2:c.1380_1429del
  • NM_001349822.2:c.1302_1351del
  • NM_001349823.2:c.1041_1090del
  • NM_032793.5:c.1386_1435delMANE SELECT
  • NP_001129965.1:p.Gln475fs
  • NP_001274737.1:p.Gln306fs
  • NP_001274738.1:p.Gln423fs
  • NP_001336750.1:p.Gln460fs
  • NP_001336751.1:p.Gln434fs
  • NP_001336752.1:p.Gln347fs
  • NP_116182.2:p.Gln462fs
  • NC_000001.10:g.40434274_40434323del
  • NR_109896.2:n.1337_1386del
Protein change:
Q306fs
Links:
OMIM: 614397.0005; dbSNP: rs2124782476
NCBI 1000 Genomes Browser:
rs2124782476
Molecular consequence:
  • NM_001136493.3:c.1425_1474del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287808.2:c.918_967del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287809.2:c.1269_1318del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349821.2:c.1380_1429del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349822.2:c.1302_1351del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349823.2:c.1041_1090del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032793.5:c.1386_1435del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_109896.2:n.1337_1386del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Microcephaly 15, primary, autosomal recessive (NEDMISBA)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
Identifiers:
MONDO: MONDO:0014660; MedGen: C4225310; Orphanet: 2512; OMIM: 616486

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002559813OMIM
no assertion criteria provided
Pathogenic
(Aug 9, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, et al.

Eur J Hum Genet. 2020 Nov;28(11):1509-1519. doi: 10.1038/s41431-020-0669-x. Epub 2020 Jun 22.

PubMed [citation]
PMID:
32572202
PMCID:
PMC7576150

Details of each submission

From OMIM, SCV002559813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

By whole-exome sequencing in a 2-year-old Saudi boy (patient 7), born to consanguineous parents, with neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA; 616486), Scala et al. (2020) identified a homozygous 50-bp deletion (c.1386_1435del, NM_032793.5) in the MFSD2A gene, resulting in a frameshift and a premature termination codon (Gln462HisfsTer17). The mutation segregated with the disorder in the family and was not present in homozygosity in public variant databases, including gnomAD.

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

Last Updated: Dec 24, 2023