NM_000363.5(TNNI3):c.514C>G (p.His172Asp) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 13, 2012
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:: RCV000159233.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.514C>G (p.His172Asp)]

NM_000363.5(TNNI3):c.514C>G (p.His172Asp)

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000363.5(TNNI3):c.514C>G (p.His172Asp)

Other names:

p.H172D:CAC>GAC

HGVS:

NC_000019.10:g.55154065G>C
NG_007866.2:g.8668C>G
NG_011829.2:g.174C>G
NM_000363.5:c.514C>GMANE SELECT
NP_000354.4:p.His172Asp
LRG_432t1:c.514C>G
LRG_432:g.8668C>G
LRG_679:g.174C>G
NC_000019.9:g.55665433G>C
NM_000363.4:c.514C>G

Protein change:

H172D

Links:

dbSNP: rs730881075

NCBI 1000 Genomes Browser:

rs730881075

Molecular consequence:

NM_000363.5:c.514C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209179	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 13, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209179

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 13, 2012)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000209179.10

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

Description

The His172Asp variant in the TNNI3 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. His172Asp results in a non-conservative amino acid substitution of a positively charged Histidine with a negatively charged Aspartic acid at a residue that is conserved across mammalian species. Mutations in nearby codons (Arg170Gln, Ala171Thr, Lys178Gln) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports His172Asp was not observed in approximately 6,200 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.In summary, while the His172Asp variant in the TNNI3 gene is a good candidate for a disease-causing mutation, we cannot unequivocally determine whether this variant is disease-causing or a benign variant.The variant is found in HCM panel(s).

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

Last Updated: Nov 5, 2022

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