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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002022426	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004204296	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 19, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002022426

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 1, 2019)

germline

clinical testing

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

SCV004204296

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 19, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004204296.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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