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NM_001367233.3(HEPH):c.649C>T (p.Pro217Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV004302668.1

Allele description [Variation Report for NM_001367233.3(HEPH):c.649C>T (p.Pro217Ser)]

NM_001367233.3(HEPH):c.649C>T (p.Pro217Ser)

Gene:
HEPH:hephaestin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_001367233.3(HEPH):c.649C>T (p.Pro217Ser)
HGVS:
  • NC_000023.11:g.66188382C>T
  • NG_016265.2:g.30792C>T
  • NM_001130860.6:c.649C>T
  • NM_001282141.3:c.649C>T
  • NM_001367232.3:c.649C>T
  • NM_001367233.3:c.649C>TMANE SELECT
  • NM_001367234.3:c.649C>T
  • NM_001367236.3:c.649C>T
  • NM_001367238.3:c.649C>T
  • NM_001367239.3:c.649C>T
  • NM_001367240.3:c.649C>T
  • NM_001367241.3:c.649C>T
  • NM_001367242.2:c.-153C>T
  • NM_001367243.3:c.649C>T
  • NM_014799.4:c.-153C>T
  • NM_138737.6:c.649C>T
  • NP_001124332.2:p.Pro217Ser
  • NP_001269070.2:p.Pro217Ser
  • NP_001354161.2:p.Pro217Ser
  • NP_001354162.2:p.Pro217Ser
  • NP_001354163.2:p.Pro217Ser
  • NP_001354165.2:p.Pro217Ser
  • NP_001354167.2:p.Pro217Ser
  • NP_001354168.2:p.Pro217Ser
  • NP_001354169.2:p.Pro217Ser
  • NP_001354170.2:p.Pro217Ser
  • NP_001354172.2:p.Pro217Ser
  • NP_620074.4:p.Pro217Ser
  • NC_000023.10:g.65408224C>T
  • NM_138737.3:c.811C>T
  • NR_159800.1:n.886C>T
  • NR_159801.2:n.886C>T
  • NR_159802.2:n.706C>T
Protein change:
P217S
Molecular consequence:
  • NM_001367242.2:c.-153C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_014799.4:c.-153C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130860.6:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282141.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367232.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367233.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367234.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367236.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367238.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367239.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367240.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367241.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367243.3:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138737.6:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_159800.1:n.886C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159801.2:n.886C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159802.2:n.706C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003959381Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003959381.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.811C>T (p.P271S) alteration is located in exon 5 (coding exon 5) of the HEPH gene. This alteration results from a C to T substitution at nucleotide position 811, causing the proline (P) at amino acid position 271 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024