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NM_020310.3(MNT):c.1456C>T (p.Pro486Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 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:
RCV004364185.1

Allele description [Variation Report for NM_020310.3(MNT):c.1456C>T (p.Pro486Ser)]

NM_020310.3(MNT):c.1456C>T (p.Pro486Ser)

Gene:
MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_020310.3(MNT):c.1456C>T (p.Pro486Ser)
HGVS:
  • NC_000017.11:g.2387194G>A
  • NM_020310.3:c.1456C>TMANE SELECT
  • NP_064706.1:p.Pro486Ser
  • NC_000017.10:g.2290488G>A
  • NM_020310.2:c.1456C>T
Protein change:
P486S
Molecular consequence:
  • NM_020310.3:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004092384Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 14, 2023) 		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, SCV004092384.2

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

Description

The c.1456C>T (p.P486S) alteration is located in exon 6 (coding exon 6) of the MNT gene. This alteration results from a C to T substitution at nucleotide position 1456, causing the proline (P) at amino acid position 486 to be replaced by a serine (S). 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 3, 2024