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NM_001204286.1(MUC1):c.239C>T (p.Ser80Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2022
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:
RCV002934632.2

Allele description [Variation Report for NM_001204286.1(MUC1):c.239C>T (p.Ser80Phe)]

NM_001204286.1(MUC1):c.239C>T (p.Ser80Phe)

Gene:
MUC1:mucin 1, cell surface associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_001204286.1(MUC1):c.239C>T (p.Ser80Phe)
HGVS:
  • NC_000001.11:g.155192130G>A
  • NM_001018016.3:c.186+53C>T
  • NM_001018017.3:c.159+53C>T
  • NM_001044390.3:c.159+53C>T
  • NM_001044391.3:c.159+53C>T
  • NM_001044392.3:c.186+53C>T
  • NM_001044393.3:c.159+53C>T
  • NM_001204285.2:c.212C>T
  • NM_001204286.1:c.239C>T
  • NM_001204287.2:c.186+53C>T
  • NM_001204288.2:c.186+53C>T
  • NM_001204289.2:c.186+53C>T
  • NM_001204290.2:c.123+53C>T
  • NM_001204291.1:c.186+53C>T
  • NM_001204292.1:c.186+53C>T
  • NM_001204293.2:c.159+53C>T
  • NM_001204294.2:c.159+53C>T
  • NM_001204295.1:c.186+53C>T
  • NM_001204296.2:c.186+53C>T
  • NM_001204297.2:c.186+53C>T
  • NM_001371720.2:c.239C>T
  • NM_002456.6:c.159+53C>T
  • NP_001191214.1:p.Ser71Phe
  • NP_001191215.1:p.Ser80Phe
  • NP_001358649.1:p.Ser80Phe
  • NP_001358649.2:p.Ser80Phe
  • NC_000001.10:g.155161921G>A
  • NM_001371720.1:c.239C>T
Protein change:
S71F
Molecular consequence:
  • NM_001018016.3:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018017.3:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001044390.3:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001044391.3:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001044392.3:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001044393.3:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204287.2:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204288.2:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204289.2:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204290.2:c.123+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204291.1:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204292.1:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204293.2:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204294.2:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204295.1:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204296.2:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204297.2:c.186+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002456.6:c.159+53C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204285.2:c.212C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204286.1:c.239C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371720.2:c.239C>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
SCV003658757Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 18, 2022) 		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, SCV003658757.2

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

Description

The c.239C>T (p.S80F) alteration is located in exon 2 (coding exon 2) of the MUC1 gene. This alteration results from a C to T substitution at nucleotide position 239, causing the serine (S) at amino acid position 80 to be replaced by a phenylalanine (F). 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: May 1, 2024