Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del)

CA2573157364

1692642 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 1d8f6437-0582-4e06-b325-5c58d9e22696

Approved on: 2024-07-11

Published on: 2024-07-11

HGVS expressions

NM_001754.5:c.191_196del

NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del)

NC_000021.9:g.34886999_34887004del

CM000683.2:g.34886999_34887004del

NC_000021.8:g.36259296_36259301del

CM000683.1:g.36259296_36259301del

NC_000021.7:g.35181166_35181171del

NG_011402.2:g.1102709_1102714del

ENST00000675419.1:c.191_196del

ENST00000300305.7:c.191_196del

ENST00000344691.8:c.110_115del

ENST00000358356.9:c.110_115del

ENST00000399237.6:c.155_160del

ENST00000399240.5:c.110_115del

ENST00000437180.5:c.191_196del

ENST00000455571.5:c.152_157del

ENST00000482318.5:c.59-6290_59-6285del

NM_001001890.2:c.110_115del

NM_001122607.1:c.110_115del

NM_001754.4:c.191_196del

NM_001001890.3:c.110_115del

NM_001122607.2:c.110_115del

Uncertain Significance

PM2_Supporting

BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP7 BP5 PVS1 PS2 PS4 PS3 PS1 PP1 PP4 PP3 PP2 PM6 PM1 PM5 PM3 PM4 BA1

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specification: ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del) is an in-frame deletion which does not affect any known functional domains. This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting.

PM2_Supporting

This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting).

BS2

This rule is not applicable for MM-VCEP.

BS4

Segregation data for this variant has not been reported in literature.

BS3

In vitro or in vivo functional data has not been reported for this variant in the literature.

BS1

This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.

BP2

This variant has not been observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.

BP3

This rule is not applicable for MM-VCEP.

BP4

This variant does not have applicable in-silico data available.

BP1

This rule is not applicable for MM-VCEP.

BP7

This variant is not a synonymous or intronic variant.

BP5

This rule is not applicable for MM-VCEP.

PVS1

This variant is not a null variant.

PS2

De novo data for this variant has not been reported in literature.

PS4

Proband data for this variant has not been reported in literature.

PS3

In vitro or in vivo functional data has not been reported for this variant in the literature.

PS1

This variant is not a missense, synonymous, or frameshift variant.

PP1

Segregation data for this variant has not been reported in literature.

PP4

This rule is not applicable for MM-VCEP.

PP3

This variant does not have applicable in-silico data available.

PP2

This rule is not applicable for MM-VCEP.

PM6

De novo data for this variant has not been reported in literature.

PM1

This variant is not a missense variant.

PM5

This variant is not a missense, synonymous, or frameshift variant.

PM3

This rule is not applicable for MM-VCEP.

PM4

This in-frame deletion/insertion does not affect any of the following amino acid residues, nor is it located within the RHD: R107, K110, A134, R162, R166, S167, R169, G170, K194, T196, D198, R201, R204 OR within residues 89-204.

BA1

This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.

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