NM_001367233.3(HEPH):c.2108G>A (p.Ser703Asn) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 26, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000880359.5

Allele description [Variation Report for NM_001367233.3(HEPH):c.2108G>A (p.Ser703Asn)]

NM_001367233.3(HEPH):c.2108G>A (p.Ser703Asn)

Gene:

HEPH:hephaestin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_001367233.3(HEPH):c.2108G>A (p.Ser703Asn)

HGVS:

NC_000023.11:g.66203394G>A
NG_016265.2:g.45804G>A
NM_001130860.6:c.2108G>A
NM_001282141.3:c.1532G>A
NM_001367232.3:c.2108G>A
NM_001367233.3:c.2108G>AMANE SELECT
NM_001367234.3:c.2108G>A
NM_001367236.3:c.2102G>A
NM_001367238.3:c.1895G>A
NM_001367239.3:c.1895G>A
NM_001367240.3:c.2108G>A
NM_001367241.3:c.2108G>A
NM_001367242.2:c.1307G>A
NM_001367243.3:c.1532G>A
NM_014799.4:c.1307G>A
NM_138737.6:c.2108G>A
NP_001124332.2:p.Ser703Asn
NP_001269070.2:p.Ser511Asn
NP_001354161.2:p.Ser703Asn
NP_001354162.2:p.Ser703Asn
NP_001354163.2:p.Ser703Asn
NP_001354165.2:p.Ser701Asn
NP_001354167.2:p.Ser632Asn
NP_001354168.2:p.Ser632Asn
NP_001354169.2:p.Ser703Asn
NP_001354170.2:p.Ser703Asn
NP_001354171.1:p.Ser436Asn
NP_001354172.2:p.Ser511Asn
NP_055614.1:p.Ser436Asn
NP_620074.4:p.Ser703Asn
NC_000023.10:g.65423236G>A
NM_138737.4:c.2270G>A
NR_159800.1:n.2345G>A
NR_159801.2:n.2345G>A
NR_159802.2:n.2165G>A

Protein change:

S436N

Links:

dbSNP: rs143121749

NCBI 1000 Genomes Browser:

rs143121749

Molecular consequence:

NM_001130860.6:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282141.3:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367232.3:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367233.3:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367234.3:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367236.3:c.2102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367238.3:c.1895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367239.3:c.1895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367240.3:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367241.3:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367242.2:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367243.3:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014799.4:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138737.6:c.2108G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_159800.1:n.2345G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159801.2:n.2345G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159802.2:n.2165G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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taste receptor type 2 member 45 [Homo sapiens]
taste receptor type 2 member 45 [Homo sapiens]
gi|392871562|ref|NP_795367.2|

Protein
Human mRNA for integrin beta(4)subunit
Human mRNA for integrin beta(4)subunit
gi|33910|emb|X51841.1|

Nucleotide
LOC127821388 [Homo sapiens]
LOC127821388 [Homo sapiens]
Gene ID:127821388

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001023450	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 26, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005210564	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001023450

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 26, 2018)

germline

clinical testing

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

SCV005210564

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001023450.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005210564.1

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

#	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: Sep 29, 2024

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