NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 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:: RCV002506947.1

Allele description [Variation Report for NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser)]

NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser)

Gene:

TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser)

HGVS:

NC_000021.9:g.44533869C>T
NG_033806.1:g.182710G>A
NM_001272037.2:c.154G>A
NM_144991.3:c.358G>AMANE SELECT
NP_001258966.1:p.Gly52Ser
NP_659428.2:p.Gly120Ser
NC_000021.8:g.45953752C>T
NM_144991.2:c.358G>A

Protein change:

G120S

Links:

dbSNP: rs138031432

NCBI 1000 Genomes Browser:

rs138031432

Molecular consequence:

NM_001272037.2:c.154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144991.3:c.358G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 98
Synonyms:: Deafness, autosomal recessive 98
Identifiers:: MONDO: MONDO:0013929; MedGen: C3553932; Orphanet: 90636; OMIM: 614861

Name:: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Identifiers:: MONDO: MONDO:0032584; MedGen: C4748560; OMIM: 618180

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002813459	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 9, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002813459

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 9, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002813459.1

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

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

Last Updated: Sep 29, 2024

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