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NM_003799.3(RNMT):c.4G>A (p.Ala2Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2022
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:
RCV004174386.1

Allele description [Variation Report for NM_003799.3(RNMT):c.4G>A (p.Ala2Thr)]

NM_003799.3(RNMT):c.4G>A (p.Ala2Thr)

Gene:
RNMT:RNA guanine-7 methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.21
Genomic location:
Preferred name:
NM_003799.3(RNMT):c.4G>A (p.Ala2Thr)
HGVS:
  • NC_000018.10:g.13731521G>A
  • NM_001308263.2:c.4G>A
  • NM_001378132.1:c.-118+766G>A
  • NM_001378134.1:c.4G>A
  • NM_001378135.1:c.4G>A
  • NM_003799.3:c.4G>AMANE SELECT
  • NP_001295192.1:p.Ala2Thr
  • NP_001365063.1:p.Ala2Thr
  • NP_001365064.1:p.Ala2Thr
  • NP_003790.1:p.Ala2Thr
  • NC_000018.9:g.13731520G>A
  • NM_003799.1:c.4G>A
  • NR_165427.1:n.232G>A
Protein change:
A2T
Molecular consequence:
  • NM_001378132.1:c.-118+766G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308263.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378134.1:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378135.1:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003799.3:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165427.1:n.232G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003656910Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 17, 2022) 		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, SCV003656910.2

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

Description

The c.4G>A (p.A2T) alteration is located in exon 3 (coding exon 1) of the RNMT gene. This alteration results from a G to A substitution at nucleotide position 4, causing the alanine (A) at amino acid position 2 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024