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NM_001166345.3(MDFIC):c.391dup (p.Met131fs) AND MDFIC-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 19, 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:
RCV003418436.5

Allele description [Variation Report for NM_001166345.3(MDFIC):c.391dup (p.Met131fs)]

NM_001166345.3(MDFIC):c.391dup (p.Met131fs)

Gene:
MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_001166345.3(MDFIC):c.391dup (p.Met131fs)
HGVS:
  • NC_000007.14:g.114979679dup
  • NG_029463.1:g.62526dup
  • NM_001166345.3:c.391dupMANE SELECT
  • NM_199072.5:c.718dup
  • NP_001159817.1:p.Met131fs
  • NP_951038.1:p.Met240fs
  • NC_000007.13:g.114619734dup
  • NM_001166345.1:c.391dupA
  • NM_001166345.3:c.391dup
  • NM_199072.4:c.718dupA
Protein change:
M131fs
Links:
OMIM: 614511.0001; dbSNP: rs562142736
NCBI 1000 Genomes Browser:
rs562142736
Molecular consequence:
  • NM_001166345.3:c.391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199072.5:c.718dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
MDFIC-related disorder
Synonyms:
MDFIC-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116381PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Aug 19, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116381.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MDFIC c.718dupA variant is predicted to result in a frameshift and premature protein termination (p.Met240Asnfs*3). Using an alternate transcript (NM_001166345), this variant is also referred to as c.391dupA (p.Met131Asnfs*3) in the literature. This variant has been reported in the homozygous and compound heterozygous states in multiple individuals with central conducting lymphatic anomaly with lymphedema (Byrne et al. 2022. PubMed ID: 35235341). Functional studies reveal that this variant escapes nonsense mediated decay, resulting in a truncated protein (Byrne et al. 2022. PubMed ID: 35235341). This variant is reported in 0.026% of alleles in individuals of European (non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024