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NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro) AND X-linked intellectual disability, van Esch type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV001809210.1

Allele description [Variation Report for NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)]

NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)

Gene:
POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)
HGVS:
  • NC_000023.11:g.24715156T>C
  • NG_016798.2:g.26210T>C
  • NM_001330360.2:c.478T>CMANE SELECT
  • NM_001378303.1:c.478T>C
  • NM_016937.4:c.460T>C
  • NP_001317289.1:p.Ser160Pro
  • NP_001365232.1:p.Ser160Pro
  • NP_058633.2:p.Ser154Pro
  • NC_000023.10:g.24733273T>C
  • NM_016937.3:c.460T>C
  • NR_165482.1:n.425T>C
  • NR_165483.1:n.522T>C
Protein change:
S154P
Links:
dbSNP: rs2148341883
NCBI 1000 Genomes Browser:
rs2148341883
Molecular consequence:
  • NM_001330360.2:c.478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378303.1:c.478T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016937.4:c.460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165482.1:n.425T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165483.1:n.522T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
X-linked intellectual disability, van Esch type
Synonyms:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O''DRISCOLL TYPE; Van Esch-O'Driscoll syndrome
Identifiers:
MONDO: MONDO:0015601; MedGen: C4305072; OMIM: 301030

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059678Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 13, 2021) 		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 Centogene AG - the Rare Disease Company, SCV002059678.1

#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: Dec 24, 2023