NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 24, 2021
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:: RCV001786756.3

Allele description [Variation Report for NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser)]

NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser)

Gene:

ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser)

HGVS:

NC_000009.12:g.106927471C>T
NG_052913.1:g.69375C>T
NM_001347997.2:c.3252+307C>T
NM_021224.6:c.3559C>TMANE SELECT
NP_067047.4:p.Pro1187Ser
NC_000009.11:g.109689752C>T
NM_021224.4:c.3559C>T
NM_021224.5:c.3559C>T

Protein change:

P1187S

Links:

dbSNP: rs3814541

NCBI 1000 Genomes Browser:

rs3814541

Molecular consequence:

NM_001347997.2:c.3252+307C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_021224.6:c.3559C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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zinc finger and SCAN domain-containing protein 23 isoform X1 [Homo sapiens]
zinc finger and SCAN domain-containing protein 23 isoform X1 [Homo sapiens]
gi|2217360260|ref|XP_047274340.1|

Protein
Dync2i1 dynein 2 intermediate chain 1 [Mus musculus]
Dync2i1 dynein 2 intermediate chain 1 [Mus musculus]
Gene ID:217935

Gene
JGI_CAAK5512.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656443 5'...
JGI_CAAK5512.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656443 5', mRNA sequence
gi|58404734|gnl|dbEST|27519310|gb|C 01.1|

Nucleotide
CR564691 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA001p02 3', mRNA sequ...
CR564691 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA001p02 3', mRNA sequence
gi|50394768|gnl|dbEST|24614208|emb| 691.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002028682	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 24, 2021)	germline	clinical testing	Citation Link,
SCV005268104	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	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

SCV002028682

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 24, 2021)

germline

clinical testing

Citation Link,

SCV005268104

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

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	clinical testing, not provided

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 GeneDx, SCV002028682.2

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005268104.1

#	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: Oct 13, 2024

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