NM_006214.4(PHYH):c.321G>A (p.Ser107=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Nov 29, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000959102.6

Allele description [Variation Report for NM_006214.4(PHYH):c.321G>A (p.Ser107=)]

NM_006214.4(PHYH):c.321G>A (p.Ser107=)

Gene:
PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_006214.4(PHYH):c.321G>A (p.Ser107=)
HGVS:
  • NC_000010.11:g.13294521C>T
  • NG_012862.1:g.10610G>A
  • NM_001037537.1:c.21G>A
  • NM_001037537.2:c.21G>A
  • NM_001323080.2:c.21G>A
  • NM_001323082.2:c.321G>A
  • NM_001323083.2:c.321G>A
  • NM_001323084.2:c.21G>A
  • NM_006214.4:c.321G>AMANE SELECT
  • NP_001032626.1:p.Ser7=
  • NP_001032626.1:p.Ser7=
  • NP_001310009.1:p.Ser7=
  • NP_001310011.1:p.Ser107=
  • NP_001310012.1:p.Ser107=
  • NP_001310013.1:p.Ser7=
  • NP_006205.1:p.Ser107=
  • NC_000010.10:g.13336521C>T
  • NC_000010.10:g.13336521C>T
  • NM_006214.3:c.321G>A
Links:
dbSNP: rs115198308
NCBI 1000 Genomes Browser:
rs115198308
Molecular consequence:
  • NM_001037537.1:c.21G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001037537.2:c.21G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323080.2:c.21G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323082.2:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323083.2:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323084.2:c.21G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006214.4:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001105991Invitaecriteria provided, single submitter
Benign
(Nov 29, 2020)
germlineclinical testing

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

SCV001817292GeneDxcriteria provided, single submitter
Likely benign
(Dec 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001105991.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001817292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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