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NM_147191.1(MMP21):c.847C>T (p.His283Tyr) AND Heterotaxy, visceral, 7, autosomal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 6, 2024
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:
RCV004544242.1

Allele description [Variation Report for NM_147191.1(MMP21):c.847C>T (p.His283Tyr)]

NM_147191.1(MMP21):c.847C>T (p.His283Tyr)

Gene:
MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.2
Genomic location:
Preferred name:
NM_147191.1(MMP21):c.847C>T (p.His283Tyr)
HGVS:
  • NC_000010.11:g.125772350G>A
  • NG_052815.2:g.8472C>T
  • NM_147191.1:c.847C>TMANE SELECT
  • NP_671724.1:p.His283Tyr
  • LRG_1307t1:c.847C>T
  • LRG_1307:g.8472C>T
  • LRG_1307p1:p.His283Tyr
  • NC_000010.10:g.127460919G>A
Protein change:
H283Y; HIS283TYR
Links:
OMIM: 608416.0009
Molecular consequence:
  • NM_147191.1:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heterotaxy, visceral, 7, autosomal (HTX7)
Identifiers:
MONDO: MONDO:0014762; MedGen: C4225217; Orphanet: 450; OMIM: 616749

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043088OMIM
no assertion criteria provided
Pathogenic
(May 6, 2024) 		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

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, et al.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

PubMed [citation]
PMID:
26437029
PMCID:
PMC5988033

Details of each submission

From OMIM, SCV005043088.1

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

Description

In a patient and his deceased sib (a fetus) with autosomal visceral heterotaxy-7 (HTX7; 616749), Akawi et al. (2015) identified compound heterozygous mutations in the MMP21 gene: a c.847C-T transition (c.847C-T, NM_147191.1), resulting in a his283-to-tyr (H283Y) substitution, and a c.947G-A transition, resulting in a trp316-to-ter (W316X; 608416.0010) substitution. The mutations, which were identified by exome sequencing, segregated with the disorder in the family. Functional studies were not performed, but molecular modeling suggested that the H283Y mutation would severely reduce zinc binding.

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

Last Updated: May 19, 2024