NM_022087.4(GALNT11):c.386A>G (p.Tyr129Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 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:: RCV004281627.1

Allele description [Variation Report for NM_022087.4(GALNT11):c.386A>G (p.Tyr129Cys)]

NM_022087.4(GALNT11):c.386A>G (p.Tyr129Cys)

Gene:

GALNT11:polypeptide N-acetylgalactosaminyltransferase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_022087.4(GALNT11):c.386A>G (p.Tyr129Cys)

HGVS:

NC_000007.14:g.152100888A>G
NM_001304514.2:c.143A>G
NM_001371458.1:c.386A>G
NM_001371459.1:c.386A>G
NM_001371460.1:c.386A>G
NM_001371461.1:c.386A>G
NM_001371462.1:c.386A>G
NM_001371463.1:c.386A>G
NM_001371464.1:c.386A>G
NM_001371465.1:c.386A>G
NM_001371466.1:c.386A>G
NM_001371467.1:c.386A>G
NM_001371468.1:c.89A>G
NM_001371469.1:c.89A>G
NM_001371470.1:c.89A>G
NM_001371471.1:c.386A>G
NM_001371472.1:c.386A>G
NM_001371473.1:c.386A>G
NM_001371474.1:c.386A>G
NM_001371475.1:c.386A>G
NM_022087.4:c.386A>GMANE SELECT
NP_001291443.1:p.Tyr48Cys
NP_001358387.1:p.Tyr129Cys
NP_001358388.1:p.Tyr129Cys
NP_001358389.1:p.Tyr129Cys
NP_001358390.1:p.Tyr129Cys
NP_001358391.1:p.Tyr129Cys
NP_001358392.1:p.Tyr129Cys
NP_001358393.1:p.Tyr129Cys
NP_001358394.1:p.Tyr129Cys
NP_001358395.1:p.Tyr129Cys
NP_001358396.1:p.Tyr129Cys
NP_001358397.1:p.Tyr30Cys
NP_001358398.1:p.Tyr30Cys
NP_001358399.1:p.Tyr30Cys
NP_001358400.1:p.Tyr129Cys
NP_001358401.1:p.Tyr129Cys
NP_001358402.1:p.Tyr129Cys
NP_001358403.1:p.Tyr129Cys
NP_001358404.1:p.Tyr129Cys
NP_071370.2:p.Tyr129Cys
NC_000007.13:g.151797973A>G
NM_022087.2:c.386A>G
NR_163956.1:n.635A>G
NR_163959.1:n.635A>G

Protein change:

Y129C

Molecular consequence:

NM_001304514.2:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371458.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371459.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371460.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371461.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371462.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371463.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371464.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371465.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371466.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371467.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371468.1:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371469.1:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371470.1:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371471.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371472.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371473.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371474.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371475.1:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022087.4:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_163956.1:n.635A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163959.1:n.635A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Racomitrium lanuginosum isolate JC2843 internal transcribed spacer 1, partial se...
Racomitrium lanuginosum isolate JC2843 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2040833047|gb|MZ227191.1|

Nucleotide
Racomitrium lanuginosum isolate JC2834 internal transcribed spacer 1, partial se...
Racomitrium lanuginosum isolate JC2834 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2040833077|gb|MZ227196.1|

Nucleotide
Racomitrium lanuginosum isolate JC1469 internal transcribed spacer 1, partial se...
Racomitrium lanuginosum isolate JC1469 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2040833038|gb|MZ227187.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003943178	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003943178

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 26, 2023)

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, SCV003943178.2

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

Description

The c.386A>G (p.Y129C) alteration is located in exon 3 (coding exon 2) of the GALNT11 gene. This alteration results from a A to G substitution at nucleotide position 386, causing the tyrosine (Y) at amino acid position 129 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: Nov 10, 2024

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