NM_153369.4(MFSD4B):c.239C>T (p.Pro80Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2021
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:
RCV004094227.1

Allele description [Variation Report for NM_153369.4(MFSD4B):c.239C>T (p.Pro80Leu)]

NM_153369.4(MFSD4B):c.239C>T (p.Pro80Leu)

Gene:
MFSD4B:major facilitator superfamily domain containing 4B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_153369.4(MFSD4B):c.239C>T (p.Pro80Leu)
HGVS:
  • NC_000006.12:g.111263872C>T
  • NG_078175.1:g.67C>T
  • NM_153369.4:c.239C>TMANE SELECT
  • NP_699200.2:p.Pro80Leu
  • NC_000006.11:g.111585075C>T
  • NM_153369.2:c.239C>T
Protein change:
P80L
Molecular consequence:
  • NM_153369.4:c.239C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003561424Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 18, 2021) 		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, SCV003561424.2

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

Description

The c.239C>T (p.P80L) alteration is located in exon 3 (coding exon 3) of the MFSD4B gene. This alteration results from a C to T substitution at nucleotide position 239, causing the proline (P) at amino acid position 80 to be replaced by a leucine (L). 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: Nov 10, 2024