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NM_001184.4(ATR):c.2664A>G (p.Ala888=) AND Seckel syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 8, 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:
RCV003127508.1

Allele description [Variation Report for NM_001184.4(ATR):c.2664A>G (p.Ala888=)]

NM_001184.4(ATR):c.2664A>G (p.Ala888=)

Gene:
ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_001184.4(ATR):c.2664A>G (p.Ala888=)
HGVS:
  • NC_000003.12:g.142553368T>C
  • NG_008951.1:g.30459A>G
  • NM_001184.4:c.2664A>GMANE SELECT
  • NM_001354579.2:c.2472A>G
  • NP_001175.2:p.Ala888=
  • NP_001341508.1:p.Ala824=
  • LRG_1403t1:c.2664A>G
  • LRG_1403:g.30459A>G
  • LRG_1403p1:p.Ala888=
  • NC_000003.11:g.142272210T>C
  • NC_000003.11:g.142272210T>C
  • NM_001184.3:c.2664A>G
Links:
dbSNP: rs767374235
NCBI 1000 Genomes Browser:
rs767374235
Molecular consequence:
  • NM_001184.4:c.2664A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354579.2:c.2472A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Seckel syndrome 1 (SCKL1)
Synonyms:
MICROCEPHALIC PRIMORDIAL DWARFISM I
Identifiers:
MONDO: MONDO:0008869; MedGen: C4551474; Orphanet: 808; OMIM: 210600

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003801743Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Feb 8, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Genome-Nilou Lab, SCV003801743.1

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

Last Updated: Sep 29, 2024