NM_001204286.1(MUC1):c.1058A>G (p.Tyr353Cys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 9, 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:: RCV003000513.2

Allele description [Variation Report for NM_001204286.1(MUC1):c.1058A>G (p.Tyr353Cys)]

NM_001204286.1(MUC1):c.1058A>G (p.Tyr353Cys)

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.1058A>G (p.Tyr353Cys)

HGVS:

NC_000001.11:g.155187772T>C
NM_001018016.3:c.398A>G
NM_001018017.3:c.371A>G
NM_001044390.3:c.266-196A>G
NM_001044391.3:c.228+391A>G
NM_001044392.3:c.255+391A>G
NM_001044393.3:c.266-228A>G
NM_001204285.2:c.1031A>G
NM_001204286.1:c.1058A>G
NM_001204287.2:c.452A>G
NM_001204288.2:c.398A>G
NM_001204289.2:c.320A>G
NM_001204290.2:c.257A>G
NM_001204291.1:c.329A>G
NM_001204292.1:c.323A>G
NM_001204293.2:c.425A>G
NM_001204294.2:c.296A>G
NM_001204295.1:c.256-228A>G
NM_001204296.2:c.293-196A>G
NM_001204297.2:c.309+391A>G
NM_001371720.2:c.3296A>G
NM_002456.6:c.425A>G
NP_001018016.1:p.Tyr133Cys
NP_001018017.1:p.Tyr124Cys
NP_001191214.1:p.Tyr344Cys
NP_001191215.1:p.Tyr353Cys
NP_001191216.1:p.Tyr151Cys
NP_001191217.1:p.Tyr133Cys
NP_001191218.1:p.Tyr107Cys
NP_001191219.1:p.Tyr86Cys
NP_001191220.1:p.Tyr110Cys
NP_001191221.1:p.Tyr108Cys
NP_001191222.1:p.Tyr142Cys
NP_001191223.1:p.Tyr99Cys
NP_001358649.1:p.Tyr1099Cys
NP_001358649.2:p.Tyr1099Cys
NP_002447.4:p.Tyr142Cys
NC_000001.10:g.155160248T>C
NM_001371720.1:c.3296A>G

Protein change:

Y107C

Molecular consequence:

NM_001044390.3:c.266-196A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001044391.3:c.228+391A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001044392.3:c.255+391A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001044393.3:c.266-228A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001204295.1:c.256-228A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001204296.2:c.293-196A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001204297.2:c.309+391A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001018016.3:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018017.3:c.371A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204285.2:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204286.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204287.2:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204288.2:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204289.2:c.320A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204290.2:c.257A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204291.1:c.329A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204292.1:c.323A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204293.2:c.425A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204294.2:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371720.2:c.3296A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002456.6:c.425A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Eph-like receptor tyrosine kinase hEphB1d [Homo sapiens]
Eph-like receptor tyrosine kinase hEphB1d [Homo sapiens]
gi|2739210|gb|AAB94628.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003703182	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 9, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003703182

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 9, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003703182.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1058A>G (p.Y353C) alteration is located in exon 5 (coding exon 5) of the MUC1 gene. This alteration results from a A to G substitution at nucleotide position 1058, causing the tyrosine (Y) at amino acid position 353 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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