NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 7, 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:: RCV002265671.8

Allele description [Variation Report for NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)]

NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)

Other names:

p.N14529S:AAT>AGT

HGVS:

NC_000002.12:g.178615436T>C
NG_011618.3:g.220367A>G
NG_051363.1:g.97610T>C
NM_001256850.1:c.43586A>G
NM_001267550.2:c.48509A>GMANE SELECT
NM_003319.4:c.21314A>G
NM_133378.4:c.40805A>G
NM_133432.3:c.21689A>G
NM_133437.4:c.21890A>G
NP_001243779.1:p.Asn14529Ser
NP_001254479.2:p.Asn16170Ser
NP_003310.4:p.Asn7105Ser
NP_596869.4:p.Asn13602Ser
NP_597676.3:p.Asn7230Ser
NP_597681.4:p.Asn7297Ser
LRG_391:g.220367A>G
NC_000002.11:g.179480163T>C
NM_003319.4:c.21314A>G
NM_133378.4:c.40805A>G

Protein change:

N13602S

Links:

dbSNP: rs370809363

NCBI 1000 Genomes Browser:

rs370809363

Molecular consequence:

NM_001256850.1:c.43586A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.48509A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.21314A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.40805A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.21689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.21890A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002547645	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (May 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002547645

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(May 7, 2022)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547645.1

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

#	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: Oct 8, 2024

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