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NM_021930.6(RINT1):c.42G>T (p.Pro14=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 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:
RCV004030696.1

Allele description [Variation Report for NM_021930.6(RINT1):c.42G>T (p.Pro14=)]

NM_021930.6(RINT1):c.42G>T (p.Pro14=)

Gene:
RINT1:RAD50 interactor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_021930.6(RINT1):c.42G>T (p.Pro14=)
HGVS:
  • NC_000007.14:g.105532357G>T
  • NG_051951.1:g.5277G>T
  • NM_001346599.2:c.-56G>T
  • NM_001346600.2:c.-978G>T
  • NM_001346601.2:c.-881G>T
  • NM_001346603.2:c.-501G>T
  • NM_021930.6:c.42G>TMANE SELECT
  • NP_068749.3:p.Pro14=
  • NC_000007.13:g.105172804G>T
  • NM_021930.4:c.42G>T
  • NR_144478.2:n.157G>T
Links:
dbSNP: rs528759477
NCBI 1000 Genomes Browser:
rs528759477
Molecular consequence:
  • NM_001346599.2:c.-56G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346600.2:c.-978G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346601.2:c.-881G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346603.2:c.-501G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_144478.2:n.157G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_021930.6:c.42G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002630880Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002630880.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.42G>T variant (also known as p.P14P) is located in coding exon 1 of the RINT1 gene. This variant results from a G to T substitution at nucleotide position 42. This nucleotide substitution does not change the proline at codon 14. However, this change occurs in the last base pair of coding exon 1, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024