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NM_001166345.3(MDFIC):c.-198G>T AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 2024
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:
RCV004637953.1

Allele description [Variation Report for NM_001166345.3(MDFIC):c.-198G>T]

NM_001166345.3(MDFIC):c.-198G>T

Genes:
LOC129999150:ATAC-STARR-seq lymphoblastoid silent region 18549 [Gene]
MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_001166345.3(MDFIC):c.-198G>T
HGVS:
  • NC_000007.14:g.114922546G>T
  • NG_029463.1:g.5393G>T
  • NG_029463.2:g.5454G>T
  • NG_178596.1:g.143G>T
  • NG_178597.1:g.83G>T
  • NM_001166345.3:c.-198G>TMANE SELECT
  • NM_001166346.1:c.130G>T
  • NM_199072.5:c.130G>T
  • NP_001159818.3:p.Gly44Cys
  • NP_951038.1:p.Gly44Cys
  • NC_000007.13:g.114562601G>T
  • NM_199072.4:c.130G>T
Protein change:
G44C
Molecular consequence:
  • NM_001166345.3:c.-198G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001166346.1:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199072.5:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005132693Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 9, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005132693.1

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

Description

The c.130G>T (p.G44C) alteration is located in exon 1 (coding exon 1) of the MDFIC gene. This alteration results from a G to T substitution at nucleotide position 130, causing the glycine (G) at amino acid position 44 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024