NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly) AND MRTFB-related disorder

Germline classification:: Pathogenic (1 submission)
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:: RCV003099146.1

Allele description [Variation Report for NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)]

NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)

Gene:

MRTFB:myocardin related transcription factor B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.12

Genomic location:

Preferred name:

NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)

HGVS:

NC_000016.10:g.14213578C>G
NM_001308142.2:c.310C>GMANE SELECT
NM_001365411.2:c.277C>G
NM_001365412.2:c.310C>G
NM_001365413.2:c.97C>G
NM_001365414.2:c.97C>G
NM_001365415.2:c.277C>G
NM_001365416.2:c.97C>G
NM_014048.4:c.310C>G
NP_001295071.1:p.Arg104Gly
NP_001352340.1:p.Arg93Gly
NP_001352341.1:p.Arg104Gly
NP_001352342.1:p.Arg33Gly
NP_001352343.1:p.Arg33Gly
NP_001352344.1:p.Arg93Gly
NP_001352345.1:p.Arg33Gly
NP_054767.3:p.Arg104Gly
NC_000016.9:g.14307435C>G

Protein change:

R104G

Molecular consequence:

NM_001308142.2:c.310C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365411.2:c.277C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365412.2:c.310C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365413.2:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365414.2:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365415.2:c.277C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365416.2:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014048.4:c.310C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MRTFB-related disorder
Synonyms:: MRTFB-Related Disorders; MRTFB-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599424	Wangler Lab, Baylor College of Medicine	no assertion criteria provided	Pathogenic	de novo, not applicable	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599424

Wangler Lab, Baylor College of Medicine

no assertion criteria provided

Pathogenic

de novo, not applicable

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Wangler Lab, Baylor College of Medicine, SCV002599424.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	not provided
2	not provided	not provided	not provided	not provided	research	not provided

Description

The evidence in fruit flies suggests pathogenicity of the reported variant.

Description

This missense variant at (NM_014048.4): c.310C>G results in p.Arg104Gly which is a significant physiochemical change of residue. It has a CADD score of 26.7. In silico models indicate damaging and deleterious predictions. Functional studies in Drosophila performed in the Wangler Lab indicate a gain of function effect (Andrews et al. 2022, see experimental observations for more info). We determine this variant to be pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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