U.S. flag

An official website of the United States government

NM_000969.5(RPL5):c.169_172del (p.Asn57fs) AND Diamond-Blackfan anemia 6

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 23, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002249419.10

Allele description [Variation Report for NM_000969.5(RPL5):c.169_172del (p.Asn57fs)]

NM_000969.5(RPL5):c.169_172del (p.Asn57fs)

Genes:
DIPK1A:divergent protein kinase domain 1A [Gene - OMIM - HGNC]
RPL5:ribosomal protein L5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
HGVS:
  • NC_000001.11:g.92833640_92833643del
  • NG_011779.2:g.6655_6658del
  • NG_033051.1:g.132883_132886del
  • NM_000969.5:c.169_172delMANE SELECT
  • NM_001252273.2:c.475-606_475-603del
  • NP_000960.2:p.Asn57fs
  • LRG_1155t1:c.169_172del
  • LRG_1155:g.6655_6658del
  • LRG_1155p1:p.Asn57fs
  • NC_000001.10:g.93299194_93299197del
  • NC_000001.10:g.93299197_93299200del
  • NC_000001.11:g.92833637_92833640delACAA
  • NM_000969.3:c.169_172del
  • NM_000969.3:c.169_172delAACA
  • NM_000969.5:c.169_172delAACAMANE SELECT
  • NR_146333.1:n.298_301del
  • p.N57Qfs*12
Protein change:
N57fs
Links:
dbSNP: rs1558284033
NCBI 1000 Genomes Browser:
rs1558284033
Molecular consequence:
  • NM_000969.5:c.169_172del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001252273.2:c.475-606_475-603del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_146333.1:n.298_301del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Diamond-Blackfan anemia 6 (DBA6)
Synonyms:
Aase-Smith syndrome II
Identifiers:
MONDO: MONDO:0012937; MedGen: C2931850; Orphanet: 124; OMIM: 612561

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002518994Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link,

SCV003935092Eurofins-Biomnis
criteria provided, single submitter

(Accession Criteria ClinVar Biomnis)		Pathogenic
(Sep 23, 2022) 		de novoclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002518994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Eurofins-Biomnis, SCV003935092.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: May 7, 2024