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NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) AND Nephronophthisis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328257.2

Allele description [Variation Report for NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)]

NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)

Gene:
RMND1:required for meiotic nuclear division 1 homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
Other names:
RMND1, ASN238SER (rs144972972)
HGVS:
  • NC_000006.12:g.151430154T>C
  • NG_033031.1:g.27028A>G
  • NM_001271937.2:c.203A>G
  • NM_017909.4:c.713A>GMANE SELECT
  • NP_001258866.1:p.Asn68Ser
  • NP_060379.2:p.Asn238Ser
  • NC_000006.11:g.151751289T>C
  • NM_017909.2:c.713A>G
  • NM_017909.3:c.713A>G
  • p.Asn238Ser
Protein change:
N238S; ASN238SER
Links:
OMIM: 614917.0004; dbSNP: rs144972972
NCBI 1000 Genomes Browser:
rs144972972
Molecular consequence:
  • NM_001271937.2:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017909.4:c.713A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Nephronophthisis
Synonyms:
juvenile nephronophthisis
Identifiers:
MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449410Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Aug 10, 2014) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a known pathogenic variant, c.713A>G (p.Asn238Ser), in the RMND1 gene. This variant has been previously reported in conjunction with a second pathogenic variant in a patient with epileptic encephalopathy and lactic acidosis. Functional studies have shown that this variant causes a decrease in the level of RMND1 protein (Janer et al 2015: European Journal of Human Genetics, 1-7). This variant is therefore considered to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024