NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs) AND Mulibrey nanism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 18, 2023
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:: RCV003474144.1

Allele description [Variation Report for NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)]

NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)

Gene:

TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)

HGVS:

NC_000017.11:g.59015749_59015750insTA
NG_009298.1:g.96157_96158insAT
NG_009298.2:g.96131_96132insAT
NM_001005207.5:c.2437_2438insAT
NM_001320987.3:c.2335_2336insAT
NM_001320988.3:c.2437_2438insAT
NM_001320989.3:c.2437_2438insAT
NM_001320990.3:c.2071_2072insAT
NM_001353082.2:c.2335_2336insAT
NM_001353083.2:c.1702_1703insAT
NM_001353084.2:c.2437_2438insAT
NM_001353085.2:c.1975_1976insAT
NM_001353086.2:c.2386_2387insAT
NM_015294.6:c.2437_2438insATMANE SELECT
NP_001005207.1:p.Leu813fs
NP_001307916.1:p.Leu779fs
NP_001307917.1:p.Leu813fs
NP_001307918.1:p.Leu813fs
NP_001307919.1:p.Leu691fs
NP_001340011.1:p.Leu779fs
NP_001340012.1:p.Leu568fs
NP_001340013.1:p.Leu813fs
NP_001340014.1:p.Leu659fs
NP_001340015.1:p.Leu796fs
NP_056109.1:p.Leu813fs
NC_000017.10:g.57093110_57093111insTA
NR_148346.2:n.2856_2857insAT
NR_148347.2:n.2754_2755insAT

Protein change:

L568fs

Molecular consequence:

NM_001005207.5:c.2437_2438insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320987.3:c.2335_2336insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320988.3:c.2437_2438insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320989.3:c.2437_2438insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320990.3:c.2071_2072insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353082.2:c.2335_2336insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353083.2:c.1702_1703insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353084.2:c.2437_2438insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353085.2:c.1975_1976insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353086.2:c.2386_2387insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015294.6:c.2437_2438insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148346.2:n.2856_2857insAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148347.2:n.2754_2755insAT - 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
SCV004204312	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 18, 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

SCV004204312

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 18, 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

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 Baylor Genetics, SCV004204312.1

#	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: Dec 30, 2023

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