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NM_015294.6(TRIM37):c.447del (p.Lys149fs) AND Mulibrey nanism syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 19, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001785085.5

Allele description [Variation Report for NM_015294.6(TRIM37):c.447del (p.Lys149fs)]

NM_015294.6(TRIM37):c.447del (p.Lys149fs)

Gene:
TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_015294.6(TRIM37):c.447del (p.Lys149fs)
HGVS:
  • NC_000017.11:g.59081144del
  • NG_009298.1:g.30764del
  • NM_001005207.5:c.447del
  • NM_001320987.3:c.345del
  • NM_001320988.3:c.447del
  • NM_001320989.3:c.447del
  • NM_001320990.3:c.81del
  • NM_001353082.2:c.345del
  • NM_001353083.2:c.-306del
  • NM_001353084.2:c.447del
  • NM_001353085.2:c.-16del
  • NM_001353086.2:c.447del
  • NM_015294.6:c.447delMANE SELECT
  • NP_001005207.1:p.Lys149fs
  • NP_001307916.1:p.Lys115fs
  • NP_001307917.1:p.Lys149fs
  • NP_001307918.1:p.Lys149fs
  • NP_001307919.1:p.Lys27fs
  • NP_001340011.1:p.Lys115fs
  • NP_001340013.1:p.Lys149fs
  • NP_001340015.1:p.Lys149fs
  • NP_056109.1:p.Lys149fs
  • NC_000017.10:g.57158503del
  • NC_000017.10:g.57158505del
  • NM_015294.3:c.447del
  • NR_148346.2:n.866del
  • NR_148347.2:n.764del
Protein change:
K115fs
Links:
dbSNP: rs1197523487
NCBI 1000 Genomes Browser:
rs1197523487
Molecular consequence:
  • NM_001353083.2:c.-306del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353085.2:c.-16del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005207.5:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320987.3:c.345del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320988.3:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320989.3:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320990.3:c.81del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353082.2:c.345del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353084.2:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353086.2:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015294.6:c.447del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148346.2:n.866del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148347.2:n.764del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mulibrey nanism syndrome
Synonyms:
Muscle-liver-brain-eye nanism; Pericardial constriction and growth failure; Perheentupa syndrome
Identifiers:
MONDO: MONDO:0009664; MedGen: C0524582; Orphanet: 2576; OMIM: 253250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002022426Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2019) 		germlineclinical testing

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

SCV004204296Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 19, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 Revvity Omics, Revvity, SCV002022426.3

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

From Baylor Genetics, SCV004204296.1

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

Last Updated: Sep 29, 2024