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NM_207421.4(PADI6):c.1006A>C (p.Ser336Arg) AND Preimplantation embryonic lethality 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 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:
RCV001814594.1

Allele description [Variation Report for NM_207421.4(PADI6):c.1006A>C (p.Ser336Arg)]

NM_207421.4(PADI6):c.1006A>C (p.Ser336Arg)

Gene:
PADI6:peptidyl arginine deiminase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_207421.4(PADI6):c.1006A>C (p.Ser336Arg)
HGVS:
  • NC_000001.11:g.17392157A>C
  • NG_032943.2:g.24912A>C
  • NM_207421.4:c.1006A>CMANE SELECT
  • NP_997304.3:p.Ser336Arg
  • NC_000001.10:g.17718652A>C
Protein change:
S336R
Links:
dbSNP: rs2100316108
NCBI 1000 Genomes Browser:
rs2100316108
Molecular consequence:
  • NM_207421.4:c.1006A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Preimplantation embryonic lethality 2 (OZEMA16)
Synonyms:
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16
Identifiers:
MedGen: C4310659; OMIM: 617234

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001994876Wang Lab, The Lab for Reproductive Genetics, Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 1, 2021) 		inheritedcase-control

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedcase-control

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

Novel biallelic mutations in PADI6 in patients with early embryonic arrest.

Dong J, Fu J, Yan Z, Li L, Qiu Y, Zeng Y, Liu R, Chen B, Shi R, Diao F, Wang L, Shi Q, Sang Q.

J Hum Genet. 2022 May;67(5):285-293. doi: 10.1038/s10038-021-00998-8. Epub 2022 Jan 6.

PubMed [citation]
PMID:
34987164

Details of each submission

From Wang Lab, The Lab for Reproductive Genetics, Fudan University, SCV001994876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023